id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source ab959be1-4d4a-459e-9670-7a4a4b3dd8c4 CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f447570-65b2-47e3-8a11-f135fb60d852 CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efda7a51-a50f-4f73-b938-8c54d2c944de CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96d36fa4-0dc5-488f-bd89-8d2ce946a259 CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa0fb9b1-207b-4ee9-9a61-47d7cc8ddf06 CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed103d41-ca7a-4a75-a84a-2ff8ef664068 CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78246ad3-a7fb-428c-bf24-56f47c211be8 CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebc7910d-67a0-457c-9977-522b6555c391 CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a46233-7a3f-4fe3-bb66-8f9973988cab CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c81a48e-c63d-47ea-8a65-03a2e6b86844 CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821bdf76-a786-49ee-90bf-732ffe64d89c CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0100b6d-bf78-49bf-a874-373f28f03217 CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d30669-219f-4ceb-988e-854386ad13f6 CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fc71af5-8673-4031-997c-d753a4cbaf4a CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c39366-4160-4c79-bb80-d0f3785cc1da CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac7ffbc7-d7f4-4d8b-9175-d84fd2469e3e CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5224f922-6611-4255-9752-94a54e0b9f31 CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e85f3aec-06f8-4f19-8382-6ecb24429d6a CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c522a112-6665-44b8-a653-af727cda1f59 CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8816a75-10ed-4da3-a73d-b89c65ff57db CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bd7813-4f91-46a4-949f-46948c98b7c8 CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0d053f1-2b2e-48ec-901f-a41ae80e290f CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92625d0d-139e-4231-b494-20c97521b752 CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89a60bfa-7ed9-4ee4-8479-4ca1b16999eb CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f3e5e9-3d27-4afe-89a0-b8b617fa027e CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30a86f95-5b7b-409a-809f-73eda1f93ebe CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b889129d-76b7-40a3-b9cb-e2ddf4f136c5 CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08fa2897-c222-42df-9724-f6200ec6446d CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f239e298-bae8-4739-895e-a71265c919bb CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1af2c42c-9c4c-4fac-aca9-e59c2771bfdd CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2831bb-ad42-4086-94b6-76f6ffff480d CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8962930-febb-46dc-a964-d1a3581bc0ce CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68247f3-df7b-480f-8cb1-aa0fe3effac0 CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84b01397-daad-45cb-99a4-452bf7799059 CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11a668e-e3dc-417f-a178-8e7359d79566 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8168b52-1774-4e17-b0e4-52d07c6f96ae CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f73551f-6dba-42f0-883c-d4fa2d0257e0 CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df6e0e61-0752-487b-8435-d8a43eb55906 CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21b9d5c-ab8e-428e-9daf-f97182dedeaf CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84f16c7d-346f-4961-bafd-734d88fdb00e CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb42868e-da4f-42ea-a1e3-c425e43b9845 CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6b3cc39-a675-4267-b545-c0fac5d2fcf1 CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3093a9b-f79c-47b2-b276-ebb6582c7c4d CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af2c3636-481c-4a66-a211-bff0ae32b24e CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1dee48-3bc9-433a-a79c-9d5ce43d5485 CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c465c24-65af-4e13-bacc-9a36ece77956 CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55650901-2680-4ac9-91d3-e58385593407 CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a3e8b95-ac6b-49de-bed8-0bbe7db723e7 CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d36e738-f19a-4e8d-bc43-26edd1052619 CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fa1839f-a815-4412-ac52-1f0f2302ec98 CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab03d43b-fe56-436a-bea6-ac5c18c9b014 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb4ab80a-a676-415a-a3b6-6cc346e91ee1 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0df5d812-5193-4f67-8655-d172bea28a88 CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 328d2a37-93f3-4b60-a678-59f97b117ce7 CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025ae304-f195-4295-9943-cd5d154f36b7 CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98003f1b-87eb-4bb8-a665-bb353d600b2b CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de629af3-5acf-474b-8007-9b9bbe60a042 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91f9ccdf-c9c2-40c3-acac-1b8da8febae7 CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494e690b-4837-4abd-a621-78bbe908684b CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cc294e9-5890-4f72-894c-90c651ccbf3e CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65eadafe-4986-4f58-b782-a961782931e5 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec566004-7201-4c03-9980-19cef0d4ee2a CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a681bd-7d95-4207-8e0a-7bf0ae1e4f04 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c772648-1edb-4986-b9d3-038deee044dd CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c82f68d-0eb7-462d-9faa-904fd2a869d7 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1178e0ad-66fe-438c-bee9-d386de8d3fca CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc064a0-db22-47a9-867e-dbacbe6ae03c CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f063191c-a8e7-41d5-a353-7cb6581b6a6e CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 585ec1a1-f970-45a5-b51f-66f15614ac52 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d721e537-19d9-4d2c-8a2a-28d91556cd54 CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f770497c-9802-4638-b441-9ed881818f39 CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c73a193-aadb-443b-8991-6dea370a2597 CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4b90b4-5379-4e79-99f8-67948a3f89f2 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c7ffc72-b9e8-472c-a972-2beedbc40dfc CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738d1bb0-8b2c-4932-9289-d3f009e52406 CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2982f07f-551a-4d59-94f1-023f6dc3465b CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19839c8a-03be-43ef-9e98-15f9f7e31547 CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f11d821-dc1b-4f49-8de5-0c6a60993ffc CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a683814-957b-4f63-a15f-9c4e3276ddb5 CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6df70aa6-757f-4857-8dc9-c5f1b0f24bfe CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556705b7-d92e-4b8c-a12f-2d2a4792068f CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6504183-081b-4036-88ab-7adda0570b1b CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a9b9ed-c07c-4b3a-9cab-906e15b708ed CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a5fbf6a-441a-4911-8bb4-400593d6ca77 CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7edfb1a-4e46-46d7-b6d5-becdfb1329bc CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c35ec4d-29b9-4352-9f44-c6f0411d8034 CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dffc5f4-1d46-49a0-806f-23f738b6f8ee CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df22be80-b1cf-46e7-a3e7-be79c0489f19 CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa53a30-df12-48e3-b7a9-d8f8a4f653e5 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0ea804f-16a7-40f8-b272-73da9ef3b13c CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3afd568e-e112-43a4-9198-1459104dde89 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93c533b6-4e5e-4c62-8dd1-a37690922782 CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa39908-86c4-4b41-9c42-e40fae1d4d21 CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae2bebf8-39bf-4a1e-b3fa-5347d0f0d7d6 CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ed74722-001a-427e-9dd4-b3744de516e9 CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62c3ed02-1700-4fb3-9f94-526c83b0d838 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae1e365-16f6-44a7-b9c1-e7bcdc13fec3 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e4f9770-f49c-4b17-b33f-031a4ce3f4a5 CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067b0a69-f256-48a4-a36b-bf69e9cb5179 CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e419f430-8f9f-486b-8686-80014d9721c0 CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f41e8f-acd3-4345-9e63-e6292faaf5d5 CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86260bac-f4ad-48da-bede-e42c8468491a CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a3205a-76a7-4c55-beff-0fe18ef188d9 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 714953c1-c443-422b-9799-9b0b5d3118d4 CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26101a84-13a1-4d46-9f83-22dca88bcf47 CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b5ced83-9329-42ef-8595-e5dd44fcba01 CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f72f1a1-7cb8-47d5-9d18-cbe6063d3589 CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7d018b0-9435-400f-bdfa-b910081a969a CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8810ab7-645d-4b53-a6bd-c7d74688e45a CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2447431-56cb-422f-a195-572560465549 CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6fbb5b-3e4b-491e-a2a8-bf970acf4f6f CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33c4dc4e-7a1d-4901-bc62-8bcc1a5526af CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21147aa3-8d71-4692-9cce-3e8f2afc5bf2 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbea8053-fbe8-41ed-8f5c-c365360b537c CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fdc6be1-7336-4d0d-b938-f5831824d47a CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b19fab9-b4e7-4f45-95cb-82a667b98cb6 CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4d61d0-99eb-424a-8e9b-6433876ca992 CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2013519-5340-44e1-8b40-c780e92a7673 CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6459d67-90be-4ed8-8212-db08802b1028 CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42707975-8ddf-4e68-b1fc-b640852c6e62 CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9618331-1fc8-4d30-82e7-75aae53de29a CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 600c6c77-af6d-4ee1-9571-ad4d1f6613fe CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e04d78a-4e1d-483a-95a7-114175640594 CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8da30aa8-af99-4e3b-afe5-f41eedb6612e CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7b4690-36fd-4e8c-bb05-64b51db98bd9 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8255517d-2998-41a1-b93b-588ae683f1df CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d927460-763f-47f9-8cd0-8f8a9901047b CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fcb66ff-915a-41f8-8a0a-7f3a047b7945 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a4c180-73ab-4530-aa97-e0c9166e51dd CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a3f900d-3ce3-4da0-932d-21ac7ebe737e CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7215b8-48e7-4363-8a0e-879453dad0c1 CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abba51f3-6b57-4d64-983f-9532e3139360 CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425ec98a-9a09-41cd-9563-f5f128ff5d18 CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd26604c-e3f0-496c-acb7-c1c3ba6d159a CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e766eb-9470-4747-a89a-e44b2eb269b3 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f757e3a8-7dca-403b-adf8-f9b14dcfa605 CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ce48b4-0b10-43da-aa29-ca41058e03a2 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14c90a8f-7a0b-4e3b-b579-67049b5a734f CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d642c26-619d-4851-a28b-10130375cabb CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b06326a0-0f1b-4125-913b-cf92114bb5aa CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c7badd-9ed1-426e-b503-f3c6769032a1 CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77fd583b-1638-4af4-bd58-ed6f10795ec2 CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77736a52-9866-455f-94c1-eca48c293c6d CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cdf6f4ee-3123-4a45-9d51-95f0be5616a0 CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458353f9-1dad-49bf-952a-29d7de1fec8e CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0760ac17-0c1f-4b6a-aa4d-a6f79f4e41ee CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e0694b-cb43-4927-9a07-07790bf80110 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 038073a3-4a39-49fa-8db1-deffd7013c5e CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af8f4a7-0e70-47f8-bd2f-c4ec97d46d9b CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70014b85-80f7-4cd9-a1be-3cd5616c1cd1 CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d88ecd-f02e-4ef7-a44f-a340f2821a0d CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6db1d95f-4dac-4ffc-870a-be42cb68c316 CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b203e0-b209-40e1-9e5c-0824523ca63f CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 477f6db8-ab31-4388-b336-6c91cc4d59d1 CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d065adf7-d0c1-433d-aad4-d4ed2842d07b CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e03c6322-b4dc-4834-addf-a360d5affcb9 CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f11eb3e-f057-4b68-9cd5-afbac9e08321 CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9618704a-f3be-4bb5-8715-0db94bf7158e CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ab691e-f088-42b2-80b8-556d20566a83 CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56fe05b0-af00-407a-a1e9-ab61abe3b750 CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7b3d5f-14a2-41a9-8226-ac406b5565cd CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbb069d5-572e-4dcc-b288-09522c4aa80c CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c52a5e-bb25-4b3d-a45a-f61ee67a2281 CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec2d68cd-7f78-49f3-bd30-f117e9c7a62e CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7a6d18-fe39-4b23-a538-8190dd242f41 CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a766fff4-a1ec-44b4-92cf-bbdbd325662a CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52a092c-16a2-4a93-bde9-e9f35b0b3320 CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0a36347-6347-457e-8741-f80e509c97f1 CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f43a6a6-a1e6-4ded-b130-3b78d66010bc CLINVAR:189462 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6174731e-2d4e-40a6-b06b-9ac0492a822c CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee6bf558-48d1-4fac-b9d0-50b10d593e42 CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 896395de-f54a-4893-8855-7de95d084730 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a797e041-171a-4b19-b52a-11706e7bec3d CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82e3a622-d30e-43d2-867d-a77ed9342693 CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f0b89c-d593-4853-a383-fb69140bbe00 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 755332de-627a-4ba1-9526-ea46ba50ecc3 CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a96ca2-1bc2-4bed-8d17-d6bfb9aa0029 CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5e20273-4863-48ec-aaf0-f82ec3377b34 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b72e53d-7209-42c3-aee9-34eb852579fa CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dc1bc1d-7b9f-4c28-9bef-d1dbdafd0fec CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2105c3a7-3ea4-4c10-ba1d-f49862465621 CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96a1db5b-2b2b-4b2c-b75f-ad1ed62ab737 CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75e8040-d3a8-49ec-aa79-da88a90a3989 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen febb1c30-bd48-4a1e-a3e1-128f67604bcf CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e20afcbf-3a72-485b-a3c4-6c5b1256562f CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4db29af6-a727-4150-adf2-d6060ef4ed0a CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 404b7ebf-ceb1-4b29-90f0-9a089dcb5611 CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13a598b7-0750-46af-8951-331eff67979c CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fce0886b-9edd-4a7a-920f-bd8131bddf22 CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e45c46f6-1d5a-46ad-88e2-a1f480715793 CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4732a464-db03-4135-a89b-e82ff01a54a7 CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ee1f304-49b4-4ec0-a068-61e3409d963e CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c7372bd-5f56-41a3-a415-b0a7bb2b54e3 CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20b2df2c-ed07-44b3-bd73-63a5611f01be CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a71c30-b592-4687-a815-b2d235d74ecb CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e51d162-3262-49d0-a674-ab13cb3643eb CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbb403a-36e3-4a7e-b81a-c511662be13c CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aecbb913-5b35-40c9-94a9-3c02ebbbb644 CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb951d31-76a9-42e8-a01f-5f3354612109 CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7272edc-5620-4c8c-9a2a-72148268e697 CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0489f2a7-fbbf-4a9e-ad12-6989399081f9 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d065638-6d8e-4d4e-85bb-7ddf4ce03494 CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938a2438-7496-4ece-bed4-3a2e62a8fe50 CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83c50d57-94ec-4900-a5b8-ddc0705228a9 CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5ad4fb-9c0a-40f4-9a3c-338b9b25165e CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60793577-a586-49ab-b72f-53e00ccd5849 CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8935e06-c307-40dc-bab9-d77f755a6ad9 CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7efeb2d-ef88-4213-bb86-9b082db0d55f CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b3d99e-10be-48ee-8389-23c1de78d151 CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c11c6dd-dd39-4c56-9c6d-8d4d49b7c9f6 CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a869c224-ccf9-4a2a-834b-4415adb5d961 CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3cafebc-7531-44a1-b99b-7db7f589bbb5 CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46fa8ac6-3bc9-4c62-ab3c-26cec7c42775 CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6291a478-df6d-45f0-85d2-f868234db989 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19af1d5d-8aa1-42b4-958e-f19a7f1ec88f CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 321264ed-158a-442e-a199-b32db2826a75 CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f6ed56-052a-41b5-a6d7-c022fc7b4805 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68aa478f-282f-4b22-9bc2-a769c576b9d4 CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 314656be-2dfd-4bb5-a080-2760ddad905b CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2f42351-6714-4c5e-bd33-178d30dffcca CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26685ec6-6eb7-4127-9592-208e12df6367 CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 657b09ea-ed4d-4fb0-8898-ba982cf73bf6 CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f9e9dc-62a8-41b1-b702-50fb01d3c262 CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e79ad65-f428-4183-9646-ac08b3929b00 CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f57a65bc-29a6-4513-ba7c-7bff4ec4ebd3 CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc0a33f0-206e-4a45-aff8-41b97b917514 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e237efe3-849c-4eb3-bcf2-411efea108f2 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fcc09fb-57a4-43f7-bb80-024781030cd3 CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45832e7-de40-41f3-95ae-b4aa387987d2 CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e5cc9ea-15cd-4e95-9d3d-09d5a50b4543 CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5d012f-521f-41ba-a8b0-e40f4ca4646b CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c47f8b03-061d-4e49-a884-c59dad1ac319 CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e5c7a5-fe31-4605-8a01-8da4da627eea CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f135b297-66ec-4a56-9b5d-cb405d4a9a28 CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76327615-8fb5-4938-9bb4-855dcc903988 CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00f1bd28-3fa2-4e51-8810-7e4842f1accd CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab4e9eb-8579-4de9-811e-23ffc55658f3 CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cda36fc3-9aa1-43b9-a93b-1113c537dd41 CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b612db-bb45-4844-9cf0-e58005488a57 CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8011a4e4-a1ba-439f-92ee-0efc3335765b CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2be34c-f785-4701-9465-82f1497b0341 CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 042d2035-9314-44c4-8f5c-e005a88552e8 CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a807ab6-e083-47bf-87bc-5c5e47bb8063 CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c143323-62d1-40c0-a1af-0026d239557c CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119a3644-6faf-4219-b897-fede1a78c474 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e7f0f7f-ced9-4977-93e2-ee8a53809c2d CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759709d5-3926-4031-ad49-28ecdfe1b45d CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56cf832b-35dc-4b67-abfb-7460a100e459 CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967bbf14-40dd-4081-8476-44152f6130d8 CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2bcc631d-010f-425a-b952-a2238dc888dc CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8e7c1a-bb8d-4fa4-aa78-ba6849a6a51e CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a227d1c-3de5-4600-a440-81d79e7fe80a CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beebc20d-3bc0-494c-ba0d-5271cf0e413a CLINVAR:43085 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc5de829-60ac-4d27-8dd4-cc09570eaad4 CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bf7ec5-6d46-43ef-ab87-f097487aee1d CLINVAR:43029 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30e9ead4-d4ec-469b-9602-525873421289 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a44e67d-d9aa-4c63-b55d-313a66bfff08 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83d96a88-ed8f-450d-8a0a-9ca9f7da603e CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259cfb91-97a3-43a0-8912-1e9807630514 CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f114b21-e9aa-442a-b392-afe818ba68b9 CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827722b1-e980-4916-b90c-7d21401c87d0 CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48ebf433-f636-463e-a9ff-5a98c384a37a CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8061e0e-5f30-4544-9242-6cbb427076ac CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e7b84d9-c053-41eb-828e-9c6469591a61 CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db68cada-10bc-4e38-af71-3c4afa59d0fb CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b69939f0-42de-4fdd-89b6-6ae28db90d84 CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00175434-697c-4c64-96a1-20e1d96fd387 CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fe68b75-419c-4a55-8649-40ca6105a890 CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0008cacc-993f-48c7-9e9d-3c0e6700d758 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a8805f7-094c-4c8d-94a5-e8e90769d06c CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f822fb-2ac1-4663-ad91-ae2e906285e1 CLINVAR:42968 biolink:genetically_associated_with MONDO:0009144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67a3f702-7df9-4392-b4d2-6d5f4d445ed5 CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ca79da-d78d-4023-82fd-fd7ba677c9a2 CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5436c99c-5416-476e-868f-2b28d4d359f8 CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f26979-ac12-424f-a3d2-7ed3cc5ab04f CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8643a6a6-ec97-49c4-b890-03995c5a7b3e CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef5c63a5-d3d6-420b-8e11-dfe46f921f7e CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55b2171e-4a35-434b-8db3-4b5f00b9ad58 CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7060e4c9-c6f7-495a-acf1-e98cd928b1fd CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9b03415-eabf-483d-83e2-c2e38d597f46 CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12aa7272-5783-47fe-86ed-21a34b3a3935 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36f3c70e-ac59-4938-bf1a-021b5f66818d CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39395592-d56f-4c0b-866a-ae1fd97f847d CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8cf0054-efe7-4761-83a6-a9bfde28acf2 CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d975ad8-fc7d-4839-bfc9-c9a3f105567f CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2aad1a2b-3bc0-40e7-b7c9-105de8ede3cb CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85114816-be7f-46a0-a51e-6c30512200d2 CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00a2a4d2-71df-48c7-beb5-75d7b06689cb CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b12f3d32-6486-409e-86db-bbaabf00fc0e CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c61917a-2cae-4814-8dde-470ba2db323b CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fc5533-eca5-47c9-825b-8b10f528002d CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 286f0607-6a28-4445-b836-2dc04dcfa69b CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33527bd-3ce3-4bfa-9d75-ba1787adf57b CLINVAR:42910 biolink:causes MONDO:0005201 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4a909c2-1114-4aba-b948-6a1fbfe41998 CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa8cbb4-120b-494b-9279-5a6f445e773a CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36c9989b-d126-4dc4-bdbf-fbc89579ed44 CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61a2ec4-fe2a-4906-849d-f54f0280bd43 CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c9f59cb-1135-432b-8a6d-49d58a06b93f CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42012e67-dcf0-40c5-8c71-0bb904557860 CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 333fa20e-f32f-493d-95dc-727512843823 CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63619616-2a68-4933-a5fa-37e1f9f6829f CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad790723-3b81-4bcd-80a4-a208a0b042d6 CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87303cc-5a7b-4dd4-a951-356c3b175d25 CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b891ff6-366a-46b1-b6be-623c50828dbe CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cefbf372-a06c-42f5-a89e-fab316c7a1e1 CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c26aa99e-08d7-46d9-97e0-963942bcd54b CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4a3617-566b-41aa-8327-7e337c5133a5 CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f973c01-e811-47a8-b8e8-6d0d244484c0 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea1b890-7238-4a18-af31-cfc2b678ba32 CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a336628-fa15-4737-b6c1-77ec2d9741f6 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f373abc4-7b5f-469c-b7dc-0089b433970e CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19dbd815-7592-4e73-9a1b-0279ea1da54d CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac224d81-a627-439a-8ae4-460cc1f0728d CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac84223a-2c8e-4e41-85f5-e6daca7eeb64 CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d82268-efe2-4e40-b23c-d93dabcae614 CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 524ffb46-a981-4cb7-a79e-e8ecae7cf163 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b06d076-2b6c-4b5f-b7ef-37e77518f7d3 CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0655d7bb-1537-41d6-b213-71fb4efc1640 CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f8e1a0-a9d5-4311-8f80-808b8ae628db CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 171b5b74-3046-4aa8-868a-8ca394956148 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f47200-06e5-470d-9ed5-3217d3993fcf CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fb40328-80f6-4ba7-ba8c-0c709fb5a8e5 CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c567a8ae-1189-4986-8eac-e0946982a64a CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15071b08-bb2d-4ccb-aad0-a0e185a2aac1 CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e04492a-92ab-44ac-b7ac-cb70a3ce0a39 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1efcce1-76fb-4e1e-aeca-e489e7f7856f CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b14e66a-64db-47cd-bc7f-4e9bee628cde CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4858c50-ee32-46e2-99c4-f8692137e94e CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b48920-cc21-410d-9904-06d3f578990a CLINVAR:177817 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 794ef8f1-557a-4eb5-8c15-990dbc527c0e CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd4ecda-23ca-4e12-bafb-e8e0b04ba47e CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b405f63-70bb-4628-b726-66a8f3ca4e44 CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d88b3c0-09be-48cc-9ef5-566d68958f1e CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bdf9904-6990-47b6-a166-fef4453d421a CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27f1dba-98f9-458b-97c0-de289fdd47b4 CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3bc0737-a095-4bb8-92f8-a49ed08ea9b0 CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a134553a-2af9-4408-9026-a233c21587b4 CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1361a96-ae68-44bc-91f5-df0302140946 CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd8d8df-716b-47a9-a288-ad9704279a4d CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43305f95-c988-45a2-a7ca-f2473a8d8dd2 CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e577e6-9e2b-44ad-9e83-729993881516 CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 905850ea-75d2-494c-9a80-265da06a22fa CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a5fb0a-966f-45ef-99a3-28675fd5f20d CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 485323dd-18a1-48e1-a7e3-a91746c343ab CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08ab21c-fbb2-47c3-a636-2a0e83b1cf95 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df5f72e7-75c6-489c-b428-c010d59ae383 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0364e40-e3d3-4f82-a8ba-6c29249910f6 CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b04bbc7f-ca6b-44c6-9d15-f321b5164c1a CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97f0ac5-3294-4a9d-9690-ba7b59e07b8e CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 764463dc-d660-4b44-ba26-1032e81a390a CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3654d1a-6899-4397-a0da-47e326b1359f CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6fff449-d0b2-4e0c-8749-c14380a075a2 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56bd0b2-a831-489b-b0a4-68ff1885ee84 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90096618-9da9-4d00-83a2-00cda3d3d810 CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db2d77c-711b-4a47-adcf-6a3ba17d0869 CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73c1fd48-4dd1-4fae-9f6d-3a34da8cfbdd CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272bb6dc-40df-4b94-ab09-0b9b11b732ab CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fed7884-61b3-4d68-a014-10c9f7d8307d CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ebc96b7-e7dd-4563-89e2-9e098a6fff26 CLINVAR:40612 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e45ec067-f357-4164-93c0-5d8cf0310716 CLINVAR:40612 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c26f7fa-5970-4c27-a90a-094208487422 CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4fc17ba-87b7-41f6-8a66-ed9aef1523de CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf8f7fd-0222-46c7-8d88-fcb6f4002a82 CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 338b7b17-d0ef-4cc0-8ae2-7fe1c4f086ab CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec349f0-b65d-4541-9e70-7901d295765d CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aaacfa06-eead-4160-92c0-a5576f460e7f CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1026e887-93a1-4734-9123-85de7eb0dc7c CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d4389a2-6b79-4aa4-bf0c-45abb414ffb4 CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f5b577-d7d1-4afa-9769-a850b6a39441 CLINVAR:40522 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fd7acab-bcb8-4740-94f9-6d0cea311abc CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc59502d-3b76-47bd-a1da-7ff270527a5c CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fed86ff-7d55-45d3-93f4-977e673b4c9d CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e26eb537-95bf-45e7-ab99-9be59b028555 CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f930d98e-2c92-421b-921c-8f5a16fd7bd6 CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8a76a1-2280-4a2a-bc16-6192ff6a2fc8 CLINVAR:40484 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db1ca6fc-12c1-4625-9863-c0b875eb8202 CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33697212-c156-4d60-a340-3258ebf762b1 CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a053d2a-2bc7-4df9-a3b7-a450c6bf6f14 CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41821dd4-d743-4933-95db-6d905c313074 CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70165d61-3fe8-473a-b57d-0449f3c64039 CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116a417f-4499-42a9-a344-b0a607ee64d0 CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba5b4e33-fcac-448b-8ebe-c0fd8803f606 CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1189a141-a46e-4fcc-82cd-31ecbb4f2e56 CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc2e3b96-b557-47e7-9b3d-b1d7eb565170 CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ac3e8a-9d40-4073-b8db-e2c95e209d5f CLINVAR:40452 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32962799-1745-4a9e-b6da-e49e1cbd4245 CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723292f0-54e3-4980-a27a-de134cf833db CLINVAR:12594 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6027e9da-b03b-4a1f-a761-94be8a0c3850 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8346bbb-dfd3-4584-acd6-96d8fc568113 CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea1c256d-9108-4199-85a5-273065ca3abc CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18cf6a4c-bf2f-418e-8f0b-e366c0baf946 CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ddae97e-3597-49b2-81b9-7cd7518971ea CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c70d4ff2-b944-4b76-87f1-a26917279cb6 CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0016fce2-b9b7-46fb-b5cf-b54dce6d6c19 CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da84956c-0967-4a5d-9df4-6b6d9644b6e0 CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39c4f6bb-c6dc-4f59-9bd5-b1cf709253d3 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b749f6-d81d-48f4-8bd7-97c349e254e2 CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e14883a0-242e-40dd-9be2-02d7f1ae37d6 CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a15d01e-e203-4a44-87ca-91bae2cf21a7 CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed484d50-b79c-409e-bdd5-c8a12d9cf6e4 CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda5d63b-0242-4e74-aa21-9bca4cb15813 CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c7e126d-1962-4ec3-95e2-181edefed545 CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9003084a-9375-4291-ae0f-65f9355f0a52 CLINVAR:12587 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 869c72e5-ced0-4ef9-9120-c4c04d426c5d CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3813ec6-4ee0-47a9-93da-260d16348d9f CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8294f8c-2936-4be1-832f-cc45571f55d2 CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977a6f28-74fa-4b17-8ac9-9873d12af39e CLINVAR:12589 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc0a5024-3739-4956-be16-57f1b385bb59 CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984131e8-3ab7-4e3e-90ff-7a4a1688d2fd CLINVAR:12610 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae4f0f23-9f48-4f82-a882-1987462f6c08 CLINVAR:12610 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9344f176-b5fb-4a31-8222-84e2ebdf20a9 CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a74713d-ba06-482d-89a7-d66731fa581a CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15da850b-da51-4012-a235-570cbbd8efca CLINVAR:12605 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 020cced7-fe45-46ef-984c-2a1741782026 CLINVAR:12605 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae24371-3c3b-4cb3-a208-eb299150c369 CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f23ccb0-0c89-4f22-bf5b-3d59a4a95621 CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd40244d-36b8-4f80-a2d0-18adcb6b61d5 CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a75ab337-3754-47be-8a2a-1e84deb445fd CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3efa24a2-a73b-49cf-acfc-c826d953c380 CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf3e684c-6aab-4e76-826c-baf8b3814fbc CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d06a4a0-58e0-411e-9a2e-804313cab3bb CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 468d1d00-35dd-4be5-9153-5a2e76c3f4b4 CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea9c98af-c512-4b85-9801-f8203174e888 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b88b3343-8d81-4fd0-bb36-804dab308a01 CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccbbe349-2d48-45c9-adc6-1270554dbf78 CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b28135c-d556-4803-a30e-7bd4a6e923bb CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7518c0d3-de22-4ed7-a38a-a42974d4996a CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ae3e622-1e0a-4459-be8c-89c3162d3f7f CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7bc1a3-2f4c-489a-8bda-7e30c73ed07f CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 569949a0-9639-44a8-bb65-81270c9dafd5 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282a9240-5309-4618-a736-92bacb896c56 CLINVAR:13960 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbb03f81-19fd-4792-b351-94c52855455b CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc75d2c6-89c0-4c57-bb90-dd2fda64d2e0 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 261d1e8e-dfcd-45e9-bf8e-857950781c4c CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd4dc26-0c29-473c-b6d2-dbdcf98c9e68 CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1dd5514-f16e-4bf5-8d00-21c3b9695621 CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbea7dc-6262-4154-a114-58b712581a9d CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2392f7b-d4d7-48c3-b8b0-e3cf1f38e30c CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3c57009-722c-47ed-a906-8464da89da67 CLINVAR:177868 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70d09457-064f-4ac8-8e90-9931d22a8f2d CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec07e3ad-ac50-4ebb-b141-918376e3b759 CLINVAR:8274 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 764407d7-f3e1-4582-8a2b-9df49638ed9e CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef41bbe-0d20-457f-ba92-f4c249846646 CLINVAR:8272 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e73a41b-9904-4323-a9bd-ea19d619fed0 CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbaa20ec-0151-479e-985d-b702e28cf250 CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a56feefe-a425-480c-bcd8-c4eb18c9c673 CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb74700e-e9c6-480e-86a9-f82d3ca7ab77 CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87e04ae4-7190-4d74-822e-f3591733efce CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e30aeb-6716-48ec-8f38-f8fd975003a3 CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 966ece33-b3b2-49c0-96dd-147c5b5949c5 CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25094df-8056-42a4-833e-8503243b94a4 CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e41a827b-4d87-451c-975a-71873576b69e CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71fb8842-8a37-4a1b-96d0-5201a90ecd13 CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77421d60-4ac8-4c3a-acc1-59f858e02d5c CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b51e6f-4a5f-453e-984e-b5395c6265a1 CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef9bdac8-79fc-4cb8-83c8-7283038c7288 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af70e96f-f2ae-4e62-8629-bc12817b3821 CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9151aebe-1d13-4787-965c-8fbed45ac714 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70205ed-801d-4af6-9e3f-80b97d85594c CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e80951d5-8102-440d-b479-bc04d26e8dca CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e424b446-4e88-4430-a5ac-6b244ed9caf7 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cac6847-75ba-462b-a45a-9ccca1abda69 CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a07c0665-1d0f-4732-8b54-b55f12647694 CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 309b2052-81b8-4754-b29d-d539cf06a8ff CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a847558-5a6e-46a5-957a-36a1e3793b59 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3f21816-a898-4142-a407-4e1b1c5a5a30 CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e544cf-add4-41fa-a9e1-6f0f42c1228a CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ba29018-f204-4c0f-ab09-e59b51ca6db4 CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871acdc9-b0a7-4f75-8dec-e8f858b84175 CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9892ec2b-b386-4510-8e1b-aeb6e0c299dd CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6281c6b9-fc2b-4fbb-bb51-e32a121cff75 CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f811875-def7-48b9-b18c-43c6bc532e9a CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d323329b-7880-4837-9355-90f55b38fca2 CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 416db466-8637-4928-9b4d-60b8fa4e95fe CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a41de7-0fc4-4687-88e1-f5400f81c014 CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a88872c7-c8aa-4967-b747-ab4bc9ea08d4 CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c221946f-615e-4dae-8f06-45090eed8704 CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ed9fab2-cf41-4d41-867d-c8b8caab7592 CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ffa2b30-6c24-4fcd-8326-743ea3e2c9dd CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ea19dea-0814-4362-9b76-0b87a58e84ad CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ec7f8a-c68f-4302-ba31-a76898474417 CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcd71c91-f7a5-416d-9307-69b22574df6d CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796c36f0-f21e-4417-b522-963d235fa80f CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6f4915c-675f-420b-8dd8-6b435095baff CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c984d2-e542-48ec-b2d5-6636f489ca6f CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dccb219-b5fc-4ad3-9e5d-c8a7ed3c8c99 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f706c92-a688-464f-a168-ae09d5d2cacd CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24ca48c4-4798-4d22-afba-e7279c94d430 CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46aff751-8dcf-4753-bdd8-7cec63d9ddcf CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d048b54-7a0a-4813-a2e6-309ee30b6e49 CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0772c75-4bfe-4add-90cf-8d16234d0035 CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed5d72cc-53da-4bbe-aa87-c444d0cc64be CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71338f41-6101-47e7-9096-aa0351a69822 CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 720df2b9-dd13-4dba-90c8-67fbce043f91 CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3dff21-f6f9-4940-8f95-1b1ecef6a6dc CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcc5597d-a3be-4910-bb84-7236f477606e CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a50c84-5445-4547-9ce0-2af98783d1b9 CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e199b819-bf39-4832-b754-0e5836201050 CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec2fb32-c0e6-4d50-a759-3e57fec6a3d5 CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen deeb8c0f-aac8-4b28-99aa-fea0a40c9c34 CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d890cc-164d-4215-8d82-e10007401a67 CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9481d88-35ca-439a-92bb-0b6eb668da7a CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb24fcd-bc98-44e1-8ab1-101b148e7318 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c94d5323-dce2-419b-bfa5-cb94a9194211 CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b86f5dd-6e26-4705-9651-2c2bf35911e1 CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff4cefd6-b4f2-4356-9cda-21e7c0ddf997 CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67c0fffc-19e0-4e61-bb9f-10b54cb8410b CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cb355ff-60b9-4862-93a6-09d99ba445a0 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf90a15-c7d3-41d6-a93e-e73bfae14d99 CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 961dd78a-8a9a-46c8-891d-f22afb0d0864 CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a100249-757e-4c1f-8c3f-5977254b6d32 CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8533c590-a2d3-4345-ba5e-c9c445276234 CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc39a4c-c505-4ac4-b47f-187bba01fda4 CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ad1c7ba-dc92-45ae-bbc4-3b6b484ff5c7 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2198b1b3-e10a-4118-a9df-9fc4c370ee25 CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d877ee22-595b-452c-80f2-938dd53002e3 CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5700916-a503-48b9-9ad2-58243501bafb CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79474237-e84a-4ecc-956e-bda20ac7049d CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d00ded3-b1d9-4c0c-a076-de83ee3ed75d CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38e94647-624d-4a86-8cf3-2f40ecf651bf CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33621386-305c-483a-ac8c-f6fc49003e59 CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1beb8cff-8c63-4e6c-927e-b7d5882d1bf0 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47fba446-3cc4-4d49-85ff-90f827a896ee CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a0652c0-f263-4979-bab1-2da8d18ed8dc CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abdee2ca-77ef-4543-8351-b18d6566e799 CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 958998f7-c401-46ba-b5f4-573103a8f374 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0738c38-6bc8-4e1b-ad4d-edb56cf28163 CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d65a7596-582d-4a2f-9cdc-0cea0e963ac6 CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07860be4-8c27-454c-89e3-f6f1f892e419 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68a75009-d18b-417c-84ce-5c7f070c2f48 CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3288cc62-9922-48d0-a57b-dd316f571ede CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 224d3604-aa31-4689-a047-95c5dd66d969 CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e544531-86c0-408c-8de9-e4df681728d7 CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fceec9c1-970e-4caa-a0a4-1dfccd6643ec CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b4308a-9d9a-4a45-aa65-f1a724e36b35 CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1cc0fdca-1732-429c-9109-8200dd9beaa9 CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213c38d5-142e-4571-bb0c-af1f48a51a33 CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44ff4d03-9e0e-40c7-8474-5628a1e57a10 CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea428dc7-8c8b-432f-b518-4c8978e1a6c0 CLINVAR:92820 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd5285ce-8cc2-4953-9894-5d1a89a95ede CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f95b7f6-d7b4-41a4-8929-8990d11362f9 CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1ef62a1-ccba-4d0e-ba31-eb27646aa98e CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4a67c2-1a3d-4bb3-9028-8a13104de302 CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9c67c0a-7d7a-4fbd-819b-2266248750bd CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b964152-2014-4e19-a444-84d34a3a63da CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2499bd2-78e5-42fe-9fd9-9a8c00d74c1d CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990a56a1-3e64-48a8-afb9-d7dd3c23a625 CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f76e282b-ac02-4c75-9147-6ca95754f7ea CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbfacdcc-d0d4-45c2-ad06-88118b32642a CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b33ed88b-0f53-4511-ac5d-594698494b8b CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9362d089-80fc-454f-8b96-81b256c0b932 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89bd8417-e070-4fc7-b906-897a1ed3c807 CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54fc96e-c84a-4855-9192-16e78957cd15 CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f014a552-65e4-41f5-ae9c-71ed112d30c3 CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d38459-fb97-4586-8d06-4adf932b5e70 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ceea4ad-766f-4b1b-b016-a4d07de7e77c CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ce1616-2ee9-48d1-b3a9-e5a7e48db8ad CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a291318-8955-48c0-b30c-93dac9ee5170 CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc9361a-b927-4881-ace1-caf53aa66fbc CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0d20d17-df18-48e0-9945-d24a437e4d06 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4229fe3d-4281-484a-b7eb-db4165041b65 CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74346207-fdc9-409b-9278-370403cfd70d CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec38434f-5a21-4d6b-8a80-bcd0fed1d953 CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c234b3a-06fa-4b70-b5e3-f76e128a9207 CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a96a732-77ce-4eea-b271-ae674732494b CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fabba7c-66cc-41ca-be1b-43963d397532 CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0df686-d01d-4351-8825-903944ccb487 CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c24761d-352f-43cb-95fd-12b4507d6f75 CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987a3859-1dd1-46a3-b39e-cb2e284cdf29 CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7843da6-bb92-4b4f-9fc8-a4a6bc4ec53f CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be447b5-5b12-47e7-b2f7-bf16100ff932 CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d99b9860-c7b9-4c01-9ebe-4c56e8f81e68 CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4088e79-ce99-40c4-8391-7f62cc151d40 CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7058c2e7-45e3-40f7-bbc5-e070deccab9b CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605b6455-9900-4739-9263-2e743b91c91d CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a84a2b6-ca9c-4616-a328-9dce0cdcc981 CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a907bf-a337-4f2f-8c88-e60b5db6170a CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81cb9027-9f34-4df8-a744-735df231cac6 CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425eafff-d6cd-44ba-9f9d-3039d2236012 CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f69f8b30-ba12-40f3-bf6c-3e02bcfb419a CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dc8f54-bf89-439d-a28f-acc90d98dbae CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92ad628a-a851-4b84-8b35-0bb1035f7517 CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c967bb3-64b5-48e5-95b3-6aec907d033a CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6769aff-e2bc-44c2-b59e-550496dd613d CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2609ff2-b4e7-4295-a224-e7ec15fce40f CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54f5305b-8acb-40f6-b483-ee146faf77d0 CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db54d75-d145-4e0d-b65f-7bd78af81e19 CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57a35ab5-6c4b-4be1-a5b8-c710ac01edc3 CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e580adce-e7c6-4844-91e3-a85474783ffe CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6c1ce90-01d8-47a2-b4ec-5569d1f10ce0 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d529f73-f4c2-4631-b7c6-17a7afc0fde4 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3bc137f9-12b5-40ba-b87c-99430cf83a18 CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be9016af-a3f6-4670-85fd-126e8336fe56 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen feb8823d-a977-4baf-adb2-a0d8ea985d5e CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4883fe08-1d48-4d7c-9f33-d83badb05d9f CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26693d47-73a5-4e83-a032-f70b36680198 CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a996af4-d5b9-48f7-afcf-d404059f28d4 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 744b18e4-b383-424e-87d2-eefd46fa3051 CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14ad173-887d-49cb-a5e9-1fec62078b78 CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4922584-5027-4b2b-b2c7-20c36362ded7 CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f19fb5c4-e157-4cf5-99ea-81e682e63443 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2c71941-f3af-4797-82b7-c17ab523f593 CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c023813-ce65-4793-81e0-206138a6c4d6 CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4999d897-b64a-46cc-a056-c0d729be133a CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f1c478b-f9e8-4f60-8f9d-76a04aea4ae8 CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32d2b2e1-fcdf-4033-9a0b-753a42a0b092 CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 559ebdc4-4f13-416d-836b-e270162201ba CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e400d07f-2840-4432-aaec-69c04f689957 CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ab0789-a99e-41d0-a57b-354896d102ce CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e28b7c9-4879-4b45-bf24-0a71023becb0 CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f527f87-83c9-4b74-9729-a0fc00036f2c CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 636f85c2-426e-40ef-b27e-be4a408821d9 CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2428bb0-cb82-4be7-854a-97f8c59c067e CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aaf59a5d-dbb4-408f-9e15-cc82d95fc790 CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a68bcfc-5f07-4b0a-be82-69dd18dbdf70 CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4231375-8203-41ed-a857-2a64168b7c72 CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17bde1e-4a16-464b-95bb-c13895b4d465 CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7f0583b-0d2b-4ee5-ae3d-b58be5876730 CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b988bde4-ff06-468e-9aa7-87cc79862338 CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77c75e7d-5f50-4e7b-b89d-dbc22ef56ddd CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598aa297-aa0a-4e57-925a-e31350d2e67b CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eabee056-1226-4e8b-8904-8f53367bd9a4 CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4123cf-e13e-415e-bad5-305f5b213b26 CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 815156d6-c2d6-4486-ba62-15a2ed9681a1 CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05991f1-fcbb-40ab-b1bb-a041f8074003 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d906eb8-3b58-406b-848e-7bb738f9d8f3 CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d72a49-e8a7-4131-9f50-924a67ceaac2 CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 161f7177-2d63-4500-868e-162084428ac4 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6a01c2d-45c0-4f97-be6f-751aab60e077 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4502209f-ecf2-4c0c-b3a4-4d60e97ce978 CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889d23ac-f359-4a90-a678-8c8d085e9606 CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 273e02a8-223f-4a92-b9ec-e8f8ac30fdc3 CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f5d026-fe9e-44fb-a1ba-86d5e7062922 CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e390b57a-4fbb-49d1-99ba-0420d71c6080 CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba62d84-d87d-43c3-ac48-1bb7b9bd9aa4 CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9cd3a9b7-3784-40b0-9fb9-5a7206db41dd CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e5bd12-3fad-4501-b362-86b5887bb315 CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f77b4c3-b78c-4758-98a1-2c99806335b6 CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c62cc284-1a4a-4d55-89f7-442c9eb28f9b CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28b2ee6b-9684-4210-aae4-d66994f4db27 CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2532f5f-c04b-42bb-8801-53807b36ef6d CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf08abaf-499f-4ae3-a42f-c3ccaba4bc15 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab9dd609-aa7d-4308-8720-a06882f038ca CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00351a74-5fc3-4027-9853-cb6b14c50269 CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf4f86b-cce5-4ac5-9351-75eef80f0146 CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8e6531c-b278-47b9-9feb-8407aa828ab8 CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bba5054-7574-465d-8ab9-3cedab6105f3 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b35c2222-8dbe-4b70-9003-4bde2bf005e5 CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa9de94-df38-45cd-86a2-0bdc069a7257 CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b245a84-09bb-48e3-8603-d874e77f13eb CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b2b098-5b77-4e95-9142-f698dd5c1b9d CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 096884ef-0427-402f-ab13-ec2e1e0cebb7 CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86401eda-9f8c-4c85-a466-c9711e94233a CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c55f2301-3783-468e-b6ff-fab3f860a8ea CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0edf7fb-b898-464e-9e5a-975df83a2b1a CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f79b4ead-fec0-4b9c-8469-40d048972379 CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ee4ff8-c179-4a58-9b12-f6205961c591 CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6069ee1-a8d4-42c2-ade7-231340a51738 CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1d02cc-0cbb-4741-9e4b-37b93f9ec57e CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ff21bcf-2bbc-4078-b1eb-821fb56234a9 CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02f2e32a-cb7f-418b-94ab-5a2d8e733d33 CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5073668e-35ff-4ece-a9f2-c7a8e6c2d5a0 CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab107b4c-35e0-4509-9f2e-dac63ba78104 CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44423c83-05ba-47b2-b750-4f7552d4aa40 CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bcc264-61d3-4344-8aa6-1892a9138f22 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c459a03-1d31-4bc5-9c63-b62390fe5390 CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d500a8-d12e-4975-8d40-e7c46878ed15 CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 522f1222-dd26-438f-8a6e-2d4d5ab1fe7a CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff121b1-a6df-4416-8848-1f218ddb59b7 CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86e63fe7-f2df-4674-9e62-5123812ab1a1 CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ef5f95-f252-4e1a-994c-6466189820ad CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c8f3a59-c9fd-4bd8-b2ab-bd74317da148 CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2a229c-4206-44c5-809d-2428e9864c0f CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 183b8d74-2e89-4c86-b92e-39847c02593c CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4485cf78-51f1-4ee7-9fd4-7356bcdb94ec CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5a2c84c-75f2-4644-bc43-6c58a9cf2568 CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9824b299-9786-4c91-8713-bbb4a60f14eb CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9721c5db-f786-41a0-bb53-72263e1550a5 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02548a1b-664b-482a-82b6-f87d2ec3e2ba CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abc93d04-8a0b-499c-931b-5333fdc7a235 CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60eb2a9f-083b-4ea8-9c21-9c4528b7db94 CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9dbed334-a855-4870-aaba-ebb57bb49ece CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751f777b-62d8-4665-af15-cc85d4870b54 CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6add342-d367-4979-aa7e-5a81c0eb5146 CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4b6032-2eff-4b21-b460-ba5cb799f26a CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e45a10d-e414-4cdb-8e0f-acf784b0174a CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d075a6-5377-4e7b-b423-29c0b36bc0c9 CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27a2ba6a-fe7f-4788-92f9-af0e5f98b881 CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7889492-48ae-4a17-b9d2-bcc5fc830fc9 CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a88640f0-bec8-49be-86bb-6c6ead89ccc8 CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d461b9-0692-4f4a-9452-c00098a16e92 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19021e3b-3fa4-4dae-b3b1-12e0bc936dde CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc220535-22f8-49a3-8c29-f5d5ad2df75e CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cbe07c6-d32f-4482-b7bd-2af6965f4dc1 CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15359e07-2654-4d81-903d-3be8554e44a2 CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f18d0bbc-e457-4694-81bf-fa16fb8674ca CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a938dc8-5d87-4c11-bc7c-09a3705ffd65 CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 142ab873-10a3-405f-869f-4955960feb8e CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2718adff-5331-40e2-b927-f2a47e53d148 CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f88de73b-7d3c-4848-8516-97d7595144dc CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40da8c26-9a7d-4cf9-84d7-c4bebd80434c CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2b11d9f-8302-4a5d-b078-42b79512c60e CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbbb0ac-9be5-4a70-91e5-e02055941a43 CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fccbf79-97b6-4d06-bf6d-ac8fc00d21e3 CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2afdef86-6f2b-49f6-b11a-2648c8943ccf CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 034a2f61-a438-4407-913d-75275881fb7c CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae6bbfd-839d-437f-ad37-ea4dbcbfa9fb CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dba19473-668a-4430-a36c-f8c13f22b73a CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df182acc-7af4-424c-ba4c-572c74db106f CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 205179fa-cdcb-40c3-9482-09382e404689 CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fb9a35-2b78-4419-8527-483cc0bf90ce CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52820484-3485-49ec-937a-dfa774db8f39 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8deddab-40ce-413f-af67-34f634a8233c CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bba37fbf-7214-4e28-bcee-26bfcca68a5b CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 335d0cd7-1638-429f-b38a-983edbcc8ad2 CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79608356-0f8c-4607-92eb-0d47df8c63af CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3702d0c9-300a-4e46-a7ae-524ceef89b56 CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d931946-0357-4e0b-b944-3cbf2396955f CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de16bc46-59e2-4517-99e5-fcdc6f42ec64 CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa126274-b3a7-458c-86e1-70b5fb3afc5d CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d323cd-c4c1-4ae4-8a45-40e443e66c37 CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8805a4c9-7554-4a09-a75d-237411bbc18b CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1651946-150d-47f1-b542-c7b4a5f66b29 CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf6017c0-ed22-4585-9102-767ebd44b839 CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ca1915-19d7-4ce9-98cc-79a802431961 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1c63af4-478b-4f05-a4e3-7d13395ba7c0 CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4edad33a-b893-4b55-9bce-a8e2e8db34b8 CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23dc719a-35e7-4aad-901e-8b7e5e645e8e CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f84c8b4-39b7-442f-b0e9-4051c6625c81 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1f8d4a1-9601-4528-912e-4e5b8acca4c3 CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69b58395-b029-4984-a3e5-428b175de3f1 CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c672928-d4a3-4394-ab3c-511108ff44a0 CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505a4f66-2bf9-4adf-bb14-071850dbc142 CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a494ddb-49df-4bec-a5fa-6f674a437194 CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0e0d72-add3-477b-9a2f-10cf2b9b28a1 CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0490dde3-d0dc-43fb-9a5a-f0d03e6c44d0 CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ff118c-39a7-4c94-8fc1-e2a06120fde6 CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbf7f1e7-8067-43cb-a64b-4dbad7528734 CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ebf784-a529-4cb4-bbae-468f4724cb5d CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7beb08b-2282-4188-8674-2b289297b38f CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5871a5bd-d515-49fb-b64c-75fa965113ce CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 975ae77a-a51b-4d81-aade-2c46d31a52ca CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f03e12-8878-4c4f-a2f8-d5f41df814cd CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a91f6d12-6005-44c3-894a-db33fa905627 CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c476d778-2389-4ae4-afe7-66764fae2152 CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67b74763-5d16-4b4c-b6c0-cce4e724a8fb CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e2a2b2-63b1-431c-a7b2-dc3ec32593a5 CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c04a516e-3ea0-4ac9-b48a-98d1527706c8 CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97e0ec7-73ec-4f96-b59c-b226a6ba9860 CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca22bea2-a720-4627-b105-d8bfca405f5d CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda01167-95aa-40ff-992c-74c7e0d3a293 CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da742387-9e79-4d3a-a570-245d025dcf54 CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb0077c4-fb9a-4226-82b4-5bfde659ac1e CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e4ec890-1d17-458d-8c99-c9bee16766c3 CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc134300-5411-4269-ba93-36829bb25f9e CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc751f91-b8a7-48a2-beb4-910d2c9ecf56 CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828267e0-4bc7-40d4-b49b-51f2fbc6fe61 CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f274e1b0-a690-4f87-8935-a81c0f2745a0 CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6d7753-b019-4d60-a64d-61352cf7e414 CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77e085ee-d75e-4f15-b130-04abd0a5e351 CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69fabb35-e54c-4755-b68e-6e7656df2a76 CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b6ff72a-4841-42e3-b336-c7821d5b23d0 CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c37900-8275-4e9d-a337-6058da5250cb CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee8e7596-5c2b-449f-a69f-ed965679a074 CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8143eece-d147-40ef-a8c3-89f3a0b18cd1 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c3159bc-ede6-4d2b-a1e4-69a05d74b9f7 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec63ae1-2c01-49c7-9e92-875b14ddb996 CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06f1dea1-d5e4-43ef-af46-4ef4bdccc8b9 CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafa215c-00ac-4672-8f22-db0a98f79fe7 CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0181a20b-5b59-45a2-a50e-5a701124a758 CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c0acdb-c288-45c3-805b-4d8caa3d6f71 CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e9b0cdc-8113-4ec0-af08-999e338bcf73 CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87db403-b5e5-4388-a5d0-3322a60f65fb CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34925d67-c771-400f-b9f7-c91623e91e25 CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132ae3ee-25d4-4d61-8cb3-6a36476b4125 CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 405aba41-f8fc-45d9-a707-d0f953960bea CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2fff458-4837-463d-84c9-ccc74c5e6712 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f3f580a-bee9-4454-a32e-402ac35a2090 CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39fa000d-b8f6-43fa-860e-422514f9b2bf CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c315b18c-9ba1-4690-87d7-6615485308f6 CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283297a7-d553-4ff4-8b7e-f598f36565bc CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22ba5f1e-3825-401a-b0b1-12449534d765 CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77fe0efa-d327-4619-b9c4-baba217efbcd CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f131749b-7359-4941-be68-4f0dab383539 CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efd0e44-f787-429c-aa54-6780589b6ddd CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 980d09aa-83ab-4b12-ae37-dea8e5936938 CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a78eac-947e-4682-a737-d4411ad693de CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 127cb4ef-6119-4b42-bb61-3d8b8d324fec CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c99164b-5a95-4fc4-8936-4b03884cc9ea CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 616255a3-fb9f-42dd-b0b3-be72b679d099 CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4cc0b9-a0c1-4359-bbff-92f218ba1a6c CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c37856f-7740-4741-992b-6820aebad85b CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc58c00-97ed-4295-84ad-d9ec1d57a0b4 CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28bb2d71-1e6b-4a24-8853-ea399a19ca50 CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6414db-a792-4d8c-8a98-ee890e37c0d7 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1cf1d607-eafd-4504-86d5-642f19cd6f4b CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffb1e40-b9af-498e-bbc9-8df81ce18d78 CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ba0fcf2-ceed-4233-8e0d-4c0d6d733fda CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc5cbff-238d-4d3b-b00e-48ce59ff6c48 CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f254b01c-4155-4fb3-9763-93308a7129c1 CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318e5a5b-89f4-4fd8-b9c9-5b420a17214d CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d36124fc-3e4d-40c3-a543-6e76fbf649fd CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b5e32a-f1b8-4ad5-b815-dae555c00444 CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d5a4bfb-affc-4694-b3e2-1086cf140b8b CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b01ebd-e079-4ae8-89c2-a370d01d11b6 CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a77f5b9-509c-4c14-a7a2-2e5ae61ee32e CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6837b9bb-4974-41ae-b1a7-a8101154cc51 CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c9f3c7d-5797-415b-80f2-6675d0fb7cc0 CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af1e5804-1219-4504-b284-00d1c2a7742f CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bcddc9c-62dd-442b-86e5-be4c71d5ad93 CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1a6ad3-29a9-4906-8235-3b7e9d3292f6 CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50426e9d-9058-4d30-9232-5ccc80a71408 CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d96fbd2-5c66-4b96-9fa6-56db0b0c62f4 CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02de322e-7bd9-4fb4-a91d-7e029a35fc96 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2d71556-1448-42cd-91a8-5237c23ef7ea CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f3f3d89-e8c3-46aa-a139-d4e33d2f12f8 CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c7ab33-0735-4a91-b796-95fd0bc4530e CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a222b1dc-3830-4b8d-807b-59ba1dded271 CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9a8fd1-3d36-4722-85e4-5325c92d906a CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d6c4d0b-5eb1-49ac-a128-af63f4e3791d CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6899a9ef-81d9-4cdf-a5a2-b16ec13bb790 CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab04751d-afd7-4533-b01c-e101122a365b CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfcaddd7-7722-42d5-800d-988c030dca9b CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c79d781-2622-496d-9fc4-88b9c5578569 CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e59234e0-bf91-470e-9dcd-057282883866 CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f14a9863-60cb-4a21-a1b8-f4d4e4302cb2 CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7529029-788c-4f2f-8b9c-e2d78f576084 CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19590e05-c410-4730-88ff-07db94ae245f CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 749d06a0-4e86-44f6-9e7e-fd1ff8ccd7cc CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc8f17a2-9d99-467a-9845-82abf7b5d2ab CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a2ac9e-1b9a-43ff-8fb3-699fa94bc316 CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6509853-b1cd-49b6-b4c9-a8e709a05500 CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d8db06-be63-4e2f-b79d-a3d9101a3c72 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e6994d4-c99d-44fa-a4e2-123e213c4034 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20103556-d515-4593-94c1-150ca1879c94 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4cd50d0-3999-4ee4-a8d4-d3966a08db49 CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eafc6d73-d95e-4f55-b5c5-c52395ce72c4 CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06844fc6-46f6-4a14-9f38-cdc5a49c6c36 CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c36357-19a6-490b-8e8a-e2469167ec0d CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ebec602c-67f6-4c6c-b394-db66e4bf206a CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c794eb6b-1d22-4b4e-b58f-e97aa7bd23ca CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e3adf25-4d76-4c9e-a1e6-d5d03a973f60 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e461c85-8f27-4c4a-a199-24194a37730d CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23759598-2435-49c6-a6e9-90558ece328d CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15de6f3-ae91-4eda-9ed6-a79046a1c3b6 CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61f19684-7e49-4dd0-b332-0ce486c49451 CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8181b8b7-aa79-4e84-a9b8-14fd7200f27c CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen edb36dc2-1d44-4214-b2a1-be59b26412ea CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa682f2e-6abd-48b1-aa59-4d54eda6cb41 CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc306657-ce63-40d5-96db-7b7dba377d00 CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2066a7b-1f32-489e-a5d3-fdc9272f21d3 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc7b78f9-bbbe-4e75-844a-5e2a45635350 CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1f1569-5597-4a43-9835-d3fb2b113f94 CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60acc0fe-f191-41e2-9798-4bbccf219d5f CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dcf432-7d45-4012-af27-981d2316e4b4 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d6a0c74-51b5-42c2-a0d6-d48d79ac7f27 CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba78e27-0d2d-42e9-9357-6c92c1456f49 CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5920555-0c96-428b-8420-e4735fc1dae5 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c464ef-991f-411e-8671-2bf825167b8d CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f227e98-b119-470b-8d95-500c2ddd3405 CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331efac6-6684-48eb-9df3-bfab99379170 CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c08ac76e-9362-44c0-9b51-1891097a765c CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79f3408-eeb1-42ad-b716-ae0bcf7a0cf2 CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a898d8db-925e-4e58-a6a5-2aec23d07f8d CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7248b03-0c8f-443f-8a63-0f462f59702b CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e17f1fe-d7ae-4ec8-b0e2-fc817e8402e1 CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 572ed411-921b-4ea1-b27e-e5aafd5efde2 CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1f99a41-8364-4209-b0f2-fd4e4143cf47 CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0875f3-b171-458f-a2ce-69ca9736638c CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f4f9d7d-4d69-4bdd-a49b-dc2ada44204a CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27934739-49a4-4256-b364-0511877ebce6 CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b63af797-0198-4448-8abb-6df04ac40231 CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e592229-5956-4495-b490-477b3bed83d7 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70b48512-4a5a-4899-8722-37d5fc4f7748 CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6135d3-6376-4b12-b455-9798e45ce5e4 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4f4bf13-b07c-4186-b270-8035ed181ee5 CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef613293-4590-4f17-8467-8bb3b51024a2 CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c67daa4-3527-4c9f-96c8-9f379e37f52f CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d509d99f-3a40-4bea-8e6c-fd97e91ab2f6 CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b9855e4-5294-49f1-a571-9bc3aec73b17 CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7f9fcc-7f3a-426f-897b-bd9d88df49c6 CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1563a790-158b-4392-aad6-00e145ab0b15 CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb3c74e-6e90-40a4-a8da-e774727bcab9 CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddfafbe6-c9e2-4fb6-9d1b-e1ef9a8a1e56 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d44b07-25dc-491e-8b29-4916b610fcb9 CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d7f604f-7fd1-441c-8ab0-9a5ec4c87998 CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56dcbde-b89d-4e09-86e8-94004dd139d0 CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3196ea3b-ecfd-4409-81d2-d0716c2fe25d CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280e9df9-4d82-45c2-b864-62932278fec2 CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69c9379a-dfd8-4db9-8fdf-d7390444a2bb CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7c765a-38ab-42f4-a1c5-2318cc904c11 CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9ee7f9d-4f5d-4c52-aac3-e1f6b16673f4 CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154fe2e8-e9b3-428b-80ae-583583097b0d CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0e8b69f-48a1-4f0b-a49f-73481cb9852d CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f020a2-a92c-4eab-9835-928b4375a76a CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dca92932-446a-4748-8c79-94fcfe8fc4d6 CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9984f08-c7f9-461e-aadf-ca87ce68ee6f CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9dca0eec-cb72-48ce-9e8a-09abcdcbccc1 CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60a9d35-17af-4bdb-9527-bd5815648710 CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6925a55-7029-460b-ac08-d865bd61efc9 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f865521-f201-4aa4-9622-6eaf6f7b8502 CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25b197ec-58e2-486b-bb18-5aba9864fc77 CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f77113-516d-411e-bec4-0497524220bd CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d788527-1154-4ce1-b069-51f1fb64c925 CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d66de9-3e31-4870-9247-8df809c07eaa CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48c3859e-0c78-4aea-919f-36f3715ede47 CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5af052-e280-497e-a0dc-5537d1bae88b CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d46352fc-4d98-4e34-8af9-6dbd5d0aa406 CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe067fc-b592-4d9e-b15f-5e149d4deba9 CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de8fb17a-4d83-4873-83f5-0c0ff69eadb3 CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18541d8-bdf1-4e56-9de5-f653345ebe70 CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e089297c-740c-4dac-933c-d2dd5485438a CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c435fa-6e09-40a4-8d77-8abbb89bc453 CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0caf4055-eecf-4060-94a9-651723b0977a CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 741f4038-bcbd-4cf1-af1a-d314af03f090 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e6deb45-debb-441b-886a-3945bfe90106 CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2afd609a-d04e-4f8d-a29a-b944743da249 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd7148be-ac74-4de1-b423-7e99264837de CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ade6f3b-4ead-49ac-bb3e-57329c0062d0 CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 844a9958-ce3c-4d3e-9efc-d6c84e9ec350 CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 962e86c2-9c15-4e3c-9436-4dd75e44cff9 CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9b407b5-7c14-44df-a6f5-b15416bc142f CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d49a21-6ea6-4aa3-bfcb-eb9b5aa435a9 CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8277571a-3759-4019-a439-a5f8af40bc63 CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d902405-227a-49f5-ad27-99e2882e7f70 CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3eb70a67-6a0b-4065-978a-b43d5bd8b6e1 CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ad32dd-b901-4075-bced-fda1c48540c1 CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0b534d2-5993-4288-8de0-265b6b77b34e CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8bdf790-9082-445a-8899-052ead27db96 CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 758e898d-aa53-4e68-9c43-9750d090d21b CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6254b8-385f-469b-9227-e5b684101cd8 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38ce6d1d-9ecb-4c31-bba0-887bb1b3350a CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9641900-02cb-44c8-8e55-e20a329b1e5a CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cd1edb9-7a92-4ac2-97de-6d831fa473a3 CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0046ad51-1fa8-4a1a-ae60-3dc335c81faf CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ddfd12e-6f8f-45f4-aba7-d971289379fa CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a882ef3-180d-4783-bee8-0124459414ee CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4852d7a3-2f54-44f1-bd7f-0e66c32b4049 CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec185d3a-c8d5-417e-8a49-79e53cc0891b CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e52a4032-193b-4048-a61a-639617f03d2a CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7091627d-c2d7-446a-af7b-f78be46da94d CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e37a888c-7a6e-44ed-b026-dce8a7df9c45 CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b26cae0-026d-4677-b148-a8e9274f6f30 CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcf4c2bd-d5fd-4b89-a8af-b237a8810656 CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd972b2-c014-4189-aeeb-a43f1afd9680 CLINVAR:142261 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fa06b23-12ce-4f5f-bd6f-f5fd183769c0 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff112639-c09f-4eea-9ebd-5dc7ed68b910 CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66a2422c-5ccf-4ad6-9f07-3f5f8da58560 CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40769b98-4247-4636-a464-fdc1157a5c6f CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9107c02b-4b4c-4f7a-9410-2970187659e8 CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee1fdb4-0db3-4b33-985a-21fe11cb6dfa CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 577ed344-7da4-4fe3-937a-de1a868f30b6 CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71254e5-214c-4e51-be8f-1d77f4d1d68c CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 066bfadd-f0a0-4b40-8f6e-e704f03ca149 CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a34bf9-2f04-4c78-a34d-73c9d9ba4deb CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d74db437-f021-490e-ac59-734686b7535b CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1182e32f-04ab-4514-959c-b8003d2768bf CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da500b79-1ed3-4ed6-9bbd-48c141986326 CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d419c6-decc-4aaa-a57b-7da651e0d674 CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fe341d4-c8e3-4b6a-8bb8-7daeec15736b CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba3c83e-a2cd-46b3-84c1-d2c08b233670 CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e313876e-0421-4e79-b1a0-0c65d6e3a10c CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9369de7-c46a-40eb-86d4-ed2dec914b57 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e89b8642-c1ef-4921-8341-6e7b3a643675 CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa48096-6d3b-43d7-911f-8baa6186cb39 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 812f6064-aeb0-4718-9443-573c247169fe CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87ffcb3-ec9a-4ac2-ad00-c5d26805c53c CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f91bab1f-31d3-48b4-92ed-9c8898b7645f CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c02d0d2-41a6-4b16-a64b-a24ae8e10fbf CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aae02748-7d53-432f-a370-b5bc1ff3e27d CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fff0fb6-a032-4892-aba1-7b1c075fbb3a CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98d19f31-8625-4ced-b9aa-42d80433d503 CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25942024-3e7b-48c5-a00b-14ff8197a1cf CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7ca529f-d166-415a-8e44-9d13b8742170 CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20b776a-8f72-45ee-8224-59aedbe57da7 CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24dd6131-f69c-4897-a30c-ffd6802bfe9c CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d8e43b-e560-4884-85d8-ca95aeed5ddd CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98cced37-607f-484a-882c-769ec32417a9 CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e888b16-1d3d-4114-84cb-7c4378b29832 CLINVAR:666273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3daa09ca-9a87-4caf-8f7f-9ca21d20efaf CLINVAR:666273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21f5fef7-45e4-4cfc-bdf9-80bc9de522b5 CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f47f7624-f8ce-4d3d-b0d7-f1fb5d537d5d CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d0cc7a-3dbd-440f-b3a8-66186d74e3fe CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2874d351-f3e0-4435-9559-70141886e541 CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a02ec067-f8ad-45bc-b226-88e07aef384e CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4157991c-d306-45e9-b92a-716889db5e03 CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a11405-4910-4021-baa2-8e7d814f104f CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1de29531-f63f-4f48-baae-1c999a88cf8b CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4367d62-d332-4b13-8101-fb830eb3a97b CLINVAR:409822 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45f7cea2-4a4b-471b-8a00-b31431181ffe CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a2b786-cf67-4557-b75f-2b1c10801288 CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10edab79-36a8-4076-9f5e-54770d763438 CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83edec1d-8363-4f77-9733-9105b5d24a93 CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cae898c-f7f8-42b4-9c74-7bbc1fd33e31 CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8058605-a2ec-4060-8842-0dcfac72121a CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d624c065-7f5e-45b0-b099-a70470e3753e CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807096a4-1b8a-42ba-b7f6-091f87c0f640 CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21fe61f0-955a-49d4-bb52-8d5167f262c1 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7f1129-3ba5-4f2f-bd7c-c81951b4bd0b CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1378781-011e-45f1-9e91-14c9c50b40af CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dac992-bd57-4e22-9d36-e7f31bfa54ae CLINVAR:239044 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ff05118-05b9-49ca-b059-9b49f9ed1ca5 CLINVAR:239044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f5f5b0-7922-4138-8d45-0fc25b79c47e CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43f91e49-9f00-44ef-b10b-960f32ce9884 CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 655014c9-a294-4fc6-b31a-0d297c0edc9c CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afc743b9-76a3-4ccf-b22f-f4836fa5ed96 CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36213f21-e5ef-4514-8329-d06e0500bc79 CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98be7df0-0de9-4c9a-ac36-f29f2c582f0b CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4f1aa6-8178-429b-928e-770dd23392f0 CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91618d80-a2c7-44a8-87d3-ba43730d3fdd CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db3db45-0357-430d-8edf-5d2486f3c347 CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2f3eab5-cb28-4ec7-b51d-2f7355b85160 CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8108d2a-d794-4a43-bfc1-66618c79fb1e CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ee524a1-e613-462e-a58d-c90ed7a5bbfe CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc05a0bf-386a-441b-b4dd-a455f2b50053 CLINVAR:561233 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed45c60f-b392-4336-9f47-95df3e1bf472 CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d4c610-b09d-488c-abfe-fe681057b938 CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60747108-6273-4b55-96a7-5b0c2863a84c CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad36cbac-c20f-4180-bbba-2ff3899ca4af CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40bd21a2-4aa8-48e5-8546-24aa8bbe958a CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919c10ef-f740-42df-88c3-8e3690f7d6a7 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43dda294-a9fa-441c-85bd-f53d3030972b CLINVAR:463975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be9da369-d38b-4126-9f9e-b9270bf1edc9 CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2680e7ab-e32a-4ed2-a470-6d8c6ad559d6 CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81b509e2-8b5c-464c-b7cf-4327248dc293 CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9beea0-9a07-464d-94bc-64c15e90d3d7 CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d05d80f-1be7-473f-a9cc-e7edf81289bd CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0923085f-6856-4e6b-81b1-b294a84227d3 CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cbfbfb3-a227-4998-a369-bdd77bae4ad6 CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a1b9ed-48dd-4bdc-8c25-0aade077f177 CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74050d8a-e42a-4bb9-97e9-677ff668a6e7 CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b51d749-2f80-4f9f-aa2d-650cd1ee9bc3 CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4bc45d4-2a64-4245-8ec6-c7c563f64209 CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4161557-eb4a-4c01-964d-0a5f3ce662e0 CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d5e7ef1-36ea-42b2-996e-d7f24fff0bd4 CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc87c766-eb72-4f0a-b06f-75176dc9dd9d CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88d61edb-703b-47fa-9045-0a61ce68a8a8 CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa11e8a8-4e0d-43b5-ae99-e6e26e762988 CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9db5646-d83c-43da-9621-51b43e1590f5 CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb8a99e-1d48-45a1-8f89-0ca18d7abb6d CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb2a1840-f381-4cd8-9110-c9fd7683e41f CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8ac3cc-bf8a-4967-b398-0248002175bc CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 506d73f0-ade9-45ad-b7a2-d1b60c74ca3a CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ae901c-0257-4fbb-9f81-fac7745ebd29 CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48494af2-66eb-4d67-af72-bdf3ccc220de CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb2a3296-da86-4852-bfe8-d93b3a81cdf7 CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0173658-50b3-408b-87b2-00cab0bf936a CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5e7a87-cd3c-4e3e-958d-7be141bbe7cb CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc81922a-bd6d-4715-9fe9-3aed24baa5d3 CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10c1b2b-12ec-4061-abeb-e26f733347b4 CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 047fe198-756b-4085-a922-7dabe0299865 CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c0cc96-7f6a-4a43-a192-e046f6876089 CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0f5c432-2695-4061-9b2c-7c8cfce4a9b2 CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06655516-cae8-4b3e-91f5-ccf45a79f502 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b52a56f5-bec1-4a2c-8301-4eeb7ab1cd44 CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174036c2-00f6-43e5-ace1-fc75e18bf633 CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdae1452-48fc-40aa-bddb-75201388f627 CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4300660d-6869-4bea-8ccb-3d36b9e3d45a CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9419162d-4d43-4561-b3cc-9b388944d9c5 CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1b49db-7c94-475f-8f9c-dbc8b78617f7 CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3204cbe5-3c61-4784-ab51-807a96bf7453 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e5cdd5-004b-4cc1-b2e2-14a1b8000854 CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0822398-4dad-4a54-9006-1ce04cea6d26 CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6fc44a9-354f-4345-ba0c-b05dd74638d4 CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27eeed27-92cf-46a0-bb26-dfbb2a38b4ae CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50056a47-5a16-42c7-af14-fa167267e3b5 CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4762684-8e7a-4289-ab9c-a3f9bc233bdf CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c43f6b-bc2d-4f7b-97a8-e7b40aba317e CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92fc5e2e-ee19-48b2-986c-d6a465dc5a1a CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e5ac1a-2665-4683-b5d2-bec5aca51f88 CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b57799d8-ac6f-4be8-9ac9-0431739eb39b CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79b09a5-82cf-4d02-b5d5-6a41e3cd992b CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5ece5b3-a7d1-4d9b-bf25-00df2f2dfc57 CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dec8379-fcd0-46d0-b49b-67fa86b339d6 CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4684d592-aef6-4968-a6fe-da5efd58c829 CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe269ae-90c9-4232-9b6d-a508e2665550 CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aae3fb88-81d9-4b3b-a893-55046ab65a78 CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc9e641-7e46-4904-a5b2-128fbad3a8cf CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc39e793-8768-4da2-b4f7-af5ca5406d49 CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66b9778-3c2b-4740-ac09-6662f34f92a8 CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b4b0f84-97fb-46ad-bbf3-6ff4357df971 CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889e2940-2923-47ff-90ed-cf4b8cd1eea2 CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b0e92d0-5999-420a-bcad-1de92a3a5ec6 CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ad6439-81f7-4924-bfff-c65af1f90976 CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17b42e14-8adb-48f8-ac6e-2e124ddbc993 CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca671007-8948-423a-a311-7444d17a74d3 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 785355e2-815e-48f9-baa1-a2a95fc4356a CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cdce2ac-997b-40a7-8a7d-7fa3002f1f33 CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09c4e16b-29b3-4db2-b8ef-8f7fa9b15fb4 CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0abf6cf1-12ae-49aa-84f4-72dd57c5b9e4 CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf53f99a-9a16-4c18-806f-889095a1b844 CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273b0ff3-72bb-406e-88cb-9749c1ab863c CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e452da1-e385-4b7a-b359-386527ab5911 CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef28ae16-4bd3-4910-add6-a8b9d12bdbff CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4db77bad-bc9b-4c56-bd1d-444cca7ac5d7 CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb3c66ad-a10c-4dcd-b2f6-935b387f7c66 CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c882b0f7-1ab1-4769-bff0-13b1b1b361c8 CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f11858-5cec-43f6-952b-28e781d33b84 CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c16bcf2-9aca-4dfc-a6c0-ae9a1f0a9032 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b684de2b-0089-422b-98b6-7b4ceb0ecbd1 CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ba14bf2-1184-454a-8323-cf476637e670 CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350e43ea-6e2f-49f3-a05e-81461139473c CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb5512e7-29b6-433b-ac0d-55bf36286297 CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ce30e5-5899-45d6-b9af-53e774207571 CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6eadbd9-943d-488b-bc67-7c7bd181f807 CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc37e33f-4ba6-4a82-9842-7692ef5f4adb CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac048247-f215-4f03-b4c4-35781a2ba03c CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5655318-0975-4f3d-bda3-508e017591b7 CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a406debc-7a32-43be-aa1b-de557063a5ef CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0916ded6-ba46-4a36-b0cb-129ce44fb453 CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3e0138f-49ba-4de5-b935-9277c259d463 CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51cdd42b-9370-4294-b975-19ed2fcee1af CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 618c6bcb-9bc9-4780-9ae0-498cc942c735 CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b10476e2-527d-405f-b195-3ad2b0983385 CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8f90478-86d2-4fe3-8259-66a7ff39c43b CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a675b86b-c94e-414d-8c79-509699ba25a9 CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18e0b7bf-1356-4238-99d6-d2041eeb9d16 CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d23bd1-ca46-4ce6-8e26-22150d8e97a0 CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80a8fbae-6716-462f-8f42-5d5b17d0cdec CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c62872-7f60-474e-a17a-1377fe95f948 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 721607b4-9bac-4e30-8f40-63c4ec083df9 CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea02ff8f-0ae3-4058-8e7b-78aa330b591e CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d2d5ef9-6445-4ee2-b735-18b148458bba CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe6da15-bc66-4306-8b6d-7aecc3ee0229 CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ddf2a4b-501f-496c-af53-ba77819bf0e7 CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 702a7699-e3a2-48c7-b12c-b6563bcfb236 CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b8bd395-1a07-4e7a-86fb-8d4ae9d7fa5b CLINVAR:422315 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086959ae-2926-4711-8418-409618067993 CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 634c825f-6307-4726-8d9f-e8d2315ff9ec CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b070e9-aedf-4780-b0d2-b5e45b5649ab CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 799a93f6-cd16-4bea-bdff-29248c08399e CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7385076-3905-4aeb-8f17-2054faffaffb CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77b93a48-1090-4b93-879e-b00370b9df80 CLINVAR:231923 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9301ac55-e866-4209-a828-5e6c633fe905 CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b31948e3-98a1-47bb-beac-0262927de662 CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa407d2b-3627-4ec9-ae83-317c68eb4d9f CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e116172-aa05-48b4-b103-2ab8ae60f8fd CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a05aebd-041f-46de-8a7d-0fd3838254da CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 571ff7bb-0d8f-4460-9fc3-baad470ea116 CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6abbd089-3346-4566-9cf0-8aa75add0200 CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 710ddcda-8431-4bf9-b7e5-a2a0b8b1a0c2 CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3a4799-42dd-4e70-86e8-bc0d6eff0aae CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0596f8e-7720-4ba3-8a05-1ec7af7c3ba2 CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efef8e10-59ae-43f9-9c08-89f63375059d CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3decafde-19fd-4a5e-bad7-5b23c362777f CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301e3f4e-ea0e-40c8-8b63-3e908d9e3bd7 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1c37b61-4f1e-4885-9553-5afe81792e8c CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca38180-b9c3-402d-944d-e5e91e1bfe0d CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3264df5-dd03-4cb9-99b4-911c5f338ebf CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3dc02f-8528-4ef3-b4f3-b20137a19d6c CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab6e955d-9081-4f52-b657-b2901e2c6004 CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224812fd-a508-4d27-94b8-18451d018dd1 CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17eececc-b6c5-4afb-9716-75e2f87e84fe CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c79c4c-c358-41bb-97d4-5f563cf18647 CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5998de39-b893-4c55-aef5-49e78a872346 CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6508ab9c-89e7-4ec8-b88a-76957bf9ee5e CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c757617-00e3-441a-84d7-e168c5262450 CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6cdc498-bb6d-45b2-b5b0-626ed6e66606 CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61ec091e-9b77-417d-94d4-0f2406caa291 CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64c70d5-2f8b-4887-bba7-915b0cace0b9 CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe7bbb52-315e-496d-a890-bb82a27f8b77 CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7899cef1-b8b5-40c2-a46f-3991c16892c0 CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27c6e46a-9cfa-4584-bd5a-dac2cca419eb CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d218ba-26a0-470a-a7a8-70e519003114 CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eba27d39-2745-4d35-8d88-55b3419fc1d5 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a857f622-48c4-4829-9d84-451342bd049a CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cbd4316-d63f-4f73-a6ad-7ebab7e14010 CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132e189e-f81a-4800-9170-da69ff2ffc39 CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba7035d1-3b45-4ff2-9b6f-4828327d69ba CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa331f6-aeb7-49dd-ba63-587e5ec0071e CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58e6f047-577c-4f2d-82dd-5e61656ec807 CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276a49f6-433d-467f-b2d4-c1a0079cd5ba CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e28fdb2c-4ea3-4850-a91a-8d5acf05c493 CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf52ca8-b01c-4be3-994d-e8d05ac951e7 CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc52fc93-e76b-447d-814c-ca079eecb200 CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbb35d1f-93e7-46ae-b082-1fbcbeae1013 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 404f01f3-0cea-4c41-8cf5-dc91a43b0e77 CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250b2e4a-1055-4127-a264-954b8f6bca66 CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09e7e846-095d-445a-b8e5-d540ad786c53 CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5355b66-77d3-44c8-bbf8-8ff57d91f0d4 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29bdaa20-6f6d-4d58-b2c1-015392138572 CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fbe7abb-e5ef-4b67-9772-65b486fc643e CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9abdb569-b1a3-43ce-8a07-da5b0d78d3a3 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52154b7-2717-42cd-b653-437ee90f486b CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05d0d829-f542-48f1-bce8-5fe345fe95ca CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45066b9-e2f7-465e-a2b8-803f83432c03 CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34de62e9-e357-4d33-9b6d-eef56d1d0103 CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b344ab47-2f10-4dc1-8bbb-de639d04c73d CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fe4bbe5-5b97-4881-8e8d-4f807770b454 CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98017a7-67c9-4fcb-ac70-f9d9d252d5fd CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f574d59-69d0-45f0-b372-cceda0495312 CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7f9e8a-a2a9-4790-8b15-0625f6fc81bc CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dabf319a-cefd-4982-b34e-0be83b9898db CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66edcf3-4648-4451-b580-b19410a71074 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 438d9e9d-dc70-4989-af2e-0f0f77fcbd39 CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec0c0ec-a10f-48c4-b475-7453d1d2dd37 CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87a8875e-bef6-46a5-9d99-ce6c17c953d7 CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f324a601-7d4c-4234-a6ed-09c7d00b9b59 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e43039e-c980-4157-88d1-ade252af028d CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfdf621-ad30-4320-822a-c209cb7fb68c CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03f7974c-c8da-41de-b3e4-6d365040f1cd CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9d8f85-c9f0-4b55-affe-b8e27dbbe088 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0584463e-d4f8-4a57-8e3e-e00d4b4acd10 CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc99f5f-5c86-4b27-8aa0-9babc3d44169 CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2894792c-61c5-43ad-bbb8-9f4929a75c8a CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9404e1-8f11-49d7-956d-d2b54012a7f3 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b38a9f54-d9fc-49ed-aab0-b1b7b28772a3 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811f2ab7-cdd3-447a-be0d-c96a7687d296 CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0bb52c27-338e-4153-9541-9354f15f4f41 CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45b3e524-87f0-4fd7-a392-a2dfc4d8b504 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46cf6762-99c1-40b1-b5d0-c50a9811edcd CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1056373-3ccc-4edd-a5fb-cde7f06fed3c CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab8d4a77-7c21-4ed2-960f-5550d47b4053 CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ae0e56-09a8-4852-a9cf-f9ec60264551 CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9d99914-aabd-4429-a084-eae4722de9ba CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956c6544-4138-4457-9e07-667c4355d86b CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff8e3290-1983-465f-a3d8-71293901be61 CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23f18cf-8f2d-4d62-b5f0-a9e87d4c4310 CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a439fc01-8110-4bab-ba12-d19c27dd5879 CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4411d848-89a7-4243-83cc-1e8f23749925 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31aac544-c8d6-4f8c-90c2-3ea5f12b016d CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e931eadf-7668-482c-9ab0-d7d7c7bf13e2 CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c15c8dc-c99e-4af7-b849-00598f73de70 CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc52a037-456d-40a2-b485-2fb5d99b6fc1 CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71a5c404-0465-44ce-b163-0a92c3ce849a CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 904eb547-8aeb-468e-b86f-0300692ea180 CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0de448ff-2300-4bbe-85b0-e7c6f5816b1b CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf6aaef-9747-4bb1-a1b0-e5149341ac45 CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 056b1c92-0a0f-42b4-817f-a7ad54b3d541 CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab712a85-e5b4-4772-9faa-d922f9fb3680 CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 772e406e-0fc6-419d-8415-1639568e39a0 CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f2c3a3-18aa-4b55-a393-d9472b07dd16 CA346367589 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 769e80da-2df0-4671-b34b-4aa9e50ee390 CA346367589 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c9785b-93b8-4158-990a-58ac78a42a73 CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d58faad-7433-44cd-8cf8-c04011b5c4c3 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9d9b0a-5f0a-494d-b03e-2b25afb7666f CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f65a78e-d45e-4891-944e-e0c7d2363347 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d325df8e-7ca4-485b-a04e-3dfb44971ebe CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a01b15e2-10df-4bb9-86cc-deb4ea74b61b CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0446398b-f721-48ac-88ac-9c7cb582c21d CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 082787ab-0e27-470b-a26f-50b60fa79fe1 CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85f9039-7f93-4050-a75e-66670315877f CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 402110d9-7ace-4c1d-88ac-f327d1614e4b CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen babe0765-cbf0-4c67-8a58-31e09e88b942 CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 897308ec-6eff-4701-b560-2fbfb690b97d CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a42c86d3-718a-4da7-853c-6984e1fe9b90 CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9424b90-dc1b-4ba5-9058-353680388d2b CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934724f7-ffd9-4b6e-a5b4-10d0c910320c CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ea165f7-7c1f-4cd1-94f6-90793f7b89d5 CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9febd9c9-7f71-47a2-aafc-34e07c666ea6 CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29e11bf5-d117-49c7-b390-fb2ad054c08e CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9786b1eb-ba06-40bd-a48a-34b451e46ff7 CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d6dd53a-778a-4248-b174-22c08e0cfedf CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25dd9ff-9f8b-475f-923d-ac1228896dae CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aae631b0-ae52-4abc-bf1d-dea9d14ab9d3 CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b0a435-098f-4199-959d-7290f44b3e48 CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58f176e0-deba-46ef-ab6d-56b7e412bae9 CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a8607e-9711-4807-9e6f-cb1b32beb566 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca461675-a033-4412-bcf4-7dce15a8cfab CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78fb33c-f7ed-48ec-91f2-3404edc4abac CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb008af3-f472-4553-90bf-556e2a90c5f8 CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc9f430-e3d2-4a2b-a6ad-cc954d1cb64e CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86d4a033-c778-44b0-8ab1-1d1899d46f4c CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2267a775-8251-47a8-aa44-391b048e8793 CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b27f3345-14fd-418b-a5e0-93251eb1c9af CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0989d8c-b8af-4328-ad02-4f2ed4fad64f CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a8bd2d3-194b-4c12-af48-3ba89740a9b3 CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60e2ebd-efe4-4610-922f-fd13159d848f CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fffeb07f-f3e4-412a-b9d4-b0d0fabac251 CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57190c2a-fac2-4e43-9072-3d493b67626b CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bc88345-2f64-4848-aa9c-3c08d8d5a711 CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158147c2-75c2-4a26-82cf-f4557bcce3a3 CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b3653cc-5c48-4375-af69-95144a9f81a3 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7ce920-cfc8-444d-9d6c-2c020fe22c17 CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5eed8eb1-b794-40a8-908c-4372c9347c88 CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de74e8a5-9f3b-40a9-b7bc-f226cdc060c2 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f22c5bbb-6b55-48c5-9b88-c4c5b65c4070 CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b408c8-04f7-449b-a6f8-5c056ed7b5ee CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf084b6f-3353-4e0f-8f68-74257b38e84e CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87a590d-f44a-4a86-b299-f8b49761562f CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 098fe173-6be6-43a7-be2b-186e8fa7b0e1 CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1369a47-a9fc-4745-be4d-386089b12e8a CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b312e2b4-e316-456d-bded-b65ac58f8b05 CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58f3af3-a3b4-4550-b2e1-dc50fec606ae CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d844462-865a-4c9b-95bc-881587261119 CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b055801-bffa-49d7-8187-62c60a8e76c8 CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44d9f95d-754a-40a8-ab3e-c691c23f5840 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4def30-56e1-4fff-bfa4-04e064389e91 CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a5e17ff-7304-4159-970b-df72ecc1a738 CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06a78bf-73b6-4aad-8e1e-ff750d6e0a3c CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b9fbe0a-45d2-4762-b140-e79a89653266 CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97fce1b-ef06-4629-81c4-4bfb145c928f CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2e8a5a4-db90-4d92-a7ad-953c83b7a987 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed923782-c488-4e1c-84d7-257afafeaa8f CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d93a5970-b0a3-4cdb-b47d-82359271abfe CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37fb83cf-e45c-4ff0-81d7-6953d7f407b9 CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04a1344f-d524-48b6-a885-9f4d47e05e85 CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e874c85-5a35-45e1-bdc4-c4a7ab7d51d9 CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e956b3e6-efe1-49b7-8d70-585d095523e5 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b5af0c-eea1-4ee5-9a83-ff827a3633af CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0360ab4-65bf-4fd5-9264-629f43f8f69a CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee138083-1341-48fd-bdfa-3de88740c0ac CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a977f21-213a-4f4e-b253-83ef8b3a881d CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28f916e-6f81-48e9-a794-41315ae65645 CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ac3ca40-217a-4d49-bf93-8d7aa8849a23 CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75919d77-60cf-41fd-8852-ce28f890c726 CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc986f70-d784-41ac-b948-26b8be4a3d1b CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c64157a-5dcc-4fa7-94db-c33c79aa04f0 CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4f4a919-3b2b-4228-9d90-503377fafae2 CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d23682-cdf1-4fd8-8596-f0da399ef23b CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a6736f5-1c67-4954-88ae-f017949bfa29 CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd95fdb-2862-41cf-a658-d00a69604cc6 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ebbb16a-d80f-481e-94ea-99f54f689ba7 CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b00edad-c301-4d23-81eb-d8903d74b5c6 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3823cadd-fa61-4381-a639-ad489b4a9381 CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 440d15c0-2a52-43e6-9aa6-65aaf2c782fa CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acabc05f-ebd9-444e-ac94-1929a350d0ef CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c4d5af1-6075-4452-8486-1ea52fbf8d5f CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 355ced45-d8cc-4b55-8476-bd677989b42c CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333289df-6a93-4f8b-9c4d-0b27df9a40ac CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efdd7476-f973-499f-a5e4-a24258192268 CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c24e40-b896-48d3-9973-286674636b8b CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8abafe36-e7d9-4337-a238-b7db17b63e67 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f02a8ea-75de-4381-be0f-bae9a0ac6d09 CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21227388-8350-45c4-8dda-460b2dc4ff18 CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6acd09cf-05de-4666-92bc-12221f1e0f1c CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22be9902-78dc-44cd-abaf-22bcd83d619c CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20aa6525-ebe6-43c6-8aac-2eae269fe8a1 CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a7e210b-b24f-4136-8476-1b2f57d5414e CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4053f02-26dc-4d05-9039-b3c8d13a3de6 CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80ba455d-a89f-4a49-bc80-3e260c196c86 CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fdf501-8583-4a74-a16b-228ee1125bf6 CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7639902-92ed-4053-b93f-b36b3206d3dc CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a223d9-1114-4b5d-be0d-47fa991bdd8a CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f077fa3-baad-4edb-b518-a53800dddbcd CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bd20fb-fe32-4898-b0a1-a8bf161d77e3 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ce2e0f4-964f-461f-b2a4-622b135c83da CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3708b401-74e7-4788-861f-3df799ae2188 CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0695abd5-777b-4a0c-b4a9-5e007cb3ce3d CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba7be2a-e6e9-4382-b010-57f0c0772899 CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1317d8b6-6f2a-43be-934c-2470de701bbb CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9895ef46-e7bf-4c17-9286-970acc2eaaf6 CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82f80957-3ede-4182-815b-b7e51784dd70 CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63ac24b7-47cb-43fa-a728-1bd95014abac CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 145f3ba0-aee8-430c-ab6c-b5f0bc8e59c3 CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83839f41-f82f-4a7e-9b14-b35f761f9a74 CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbb5e11a-e767-43db-b045-10a04ebf3aee CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6c73e5-9937-41e2-ab37-cf8bcade6a4d CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0eec9bca-a438-4f51-b895-3c4e943b8ba5 CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9590097-2dc8-4746-9b65-b58401a3a91c CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05e0d2e3-835b-4187-949e-d2bb4e839f3a CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c948cca2-c34b-4ac9-9cf7-9472f76f033e CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20b53b89-7b44-4574-80f1-f85e2ebce710 CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e344225-bcf0-4fa5-8e15-fba22fb8b51e CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c3fb30e-9ea7-4b95-8fb4-3b8734c4dbad CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f846e170-7f1f-457d-89b2-ee052dd6fab1 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bcd518b-0137-41f5-9091-c7388e251067 CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b362b9e4-74de-4540-8fdc-daaed7d542ad CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d826336c-6d03-4bc2-b17b-6aab4541e300 CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24918b66-543a-43b5-8d99-a8ccd5136edb CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1198077-b5af-4301-ad98-f8c8ecc822f5 CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c81fb7-0868-4649-8f87-4bc80251f640 CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 815fbaa2-531e-4ebf-80c4-70caf2eb0e70 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3290d0-cabe-43c0-8d7a-8561592e068f CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5afa4aca-3dcc-4018-860d-99a4fa1f3551 CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c681ed-b911-4b93-b7a3-71d75575818d CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4712c7d-ce26-4676-9887-ca64387f5572 CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be51a156-4b22-4088-b36d-06ce989c057d CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f89e08f0-45cf-4862-9e43-f110af04d80f CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf345f01-6b07-4b26-868c-a8901ab3a71e CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3f30471-6582-4798-8997-58352cc63dd7 CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f745f1f-429c-43ce-9532-e4c1d7edf613 CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0958dca9-6b54-4abb-84a6-92901ab8a6eb CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e17aa86d-c035-4010-886c-e72e190a9c2e CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7355ff6d-cb59-40d1-ab7b-443006aadbb6 CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8510e381-f47c-4418-91dd-7d2fd8553725 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8def8bca-0414-451a-9c48-b779599e4e61 CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e769d562-c0fc-4d88-afd9-47fa34cfa970 CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7662f163-0475-49c6-873d-23b9e4bf8564 CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffb4b36-81f4-40a3-a01b-ea03028e42a5 CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a7b6ab8-c590-42a0-8165-70dd5c59b554 CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02c08a1-4d1c-4d47-b889-bc8e245cd3d9 CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ef53348-48bd-439f-b10e-5429895d0bec CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b72962-3828-4e9c-8bdf-a1b668be4dc5 CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cc6db52-2d4f-4ba9-a3eb-8ae936213cf0 CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281c26d7-a9d0-4ead-b538-26fdbf829e8f CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70605f97-23ec-4aed-86e4-4aab93dc0552 CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5865f98c-d32c-437c-9637-468125078f5e CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af94d583-0ede-48b0-9d14-7bc2b2c7ad14 CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f7bdfd-49bf-4ca3-89e4-2f76c2f82f66 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59c0b8ff-8163-4852-b0f9-114040c5a948 CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d94c996-3fa7-4c34-86f6-0bb6602b8757 CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb2163cc-7487-41fc-811a-5e0aa6db0940 CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49ef03e-8537-4e5c-a407-dc3b4e41b7ac CLINVAR:532683 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9d7ccc0-caeb-4f77-a708-a1af3a5ced1a CLINVAR:532683 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e662c83f-4580-4db6-8a8b-b58e3d5126b4 CLINVAR:464005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 670d6759-bfa2-476c-b38e-4c5ea846e5d4 CLINVAR:464005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67446015-3fdf-42bd-90b8-2ab39dff5231 CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8041089a-1181-48d0-824a-370ff5303453 CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d63719-69d0-4556-a8f4-89b0c83ee75f CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc44bbfc-64bf-4233-8e2a-65730b2c6c07 CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7f4608-29a7-4edb-89b4-f6a63bbdb8fb CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7549580-1e4b-4ac7-b6e1-480b0a496945 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e0dd70-0626-41c1-8910-355d6c80c81c CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5032d83b-29df-4620-a712-45e83372d898 CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98234e6-09b4-448f-b17a-367646e2af16 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen beb00026-f905-4d5c-bc87-4c503da37802 CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4945ef8-f845-4c5e-93af-5f8470f75915 CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adaa0803-ecec-45ea-af25-62c3ddc91cac CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d816df7b-c228-4698-b3a9-1f69e8dac1f5 CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09e71bff-bb79-46c3-9572-e23527bbcd37 CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932f9fbd-e6d5-4acc-8cd5-93a0b29f31fc CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1149b28f-d57d-480e-8de1-8fbdc5275c92 CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ff752e-ec13-49cc-9aff-7c4ec35f4aee CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2d36dc4-c5aa-4880-a830-a58d4f07380e CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75903408-4b5e-487c-8e89-06112925c1a5 CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbc8db69-53c1-4ba9-9117-c1bd4e06f713 CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40ae40f-cb95-4dd1-8034-f561f9863534 CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f3f8f92-37bd-4aee-90b0-645a2132bdf7 CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6394366a-87cf-42f0-aaba-2fed04253f19 CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f87f9c4f-722e-423c-9b3e-1438215eb4fa CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a07ae1bc-0ac8-4c51-b978-143753590032 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dda41300-9742-4360-9ebf-ce67c3f3cb3a CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019b6ce8-c674-422c-aade-9f37a2dca180 CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f77b4082-679b-4235-9036-b14394d929f4 CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e4d8dd-9576-43bc-aea0-57168b1cf4fb CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fe4512f-9a1a-4e2b-8f2f-ba75397707e7 CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfa73bc-9dc5-4948-abdd-05beaab9f54f CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bf4e6ff-7c54-44d8-941a-d2d9ab1a19dc CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631bbf9a-40c5-430c-ac0b-b4ebae5a3e85 CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e05252e-45cf-46da-9fd2-c9998ef523cd CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a605d75e-66e2-4628-8bb6-b23317d608a4 CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3427efd3-a20d-43a4-a967-7c0951eb85cf CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dea074e-ee57-4cea-bdec-708ecf255365 CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 099b8190-0fbc-4441-b32b-b80bbf49e368 CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ed416c-5bd1-45a6-8572-7c84df16c2c5 CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d90bbdc8-4cd1-4ffa-bfb5-b8e1d2fc13e0 CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea41be9-9ef4-423d-93ec-3e4d1a6ca8f4 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a04eaf1-abf4-41b9-9390-148fbbb17878 CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb1c4e8-2295-4dbc-b751-3c32a742bcdc CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a944f5d-c704-467f-b0c4-6aec6e6eb663 CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be57ce8-30e4-4be3-baa2-e7ed0cce7457 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8f42c59-d698-446e-bd82-ec58ffcafe6b CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11370b8b-9523-4979-baa1-4592feea443b CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4504f7a-d99a-490f-9df8-bf99bd19060b CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d5286e-f1ed-43df-b0a7-dcba403deb6b CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49940fb8-9d88-4fef-af82-e50df5a4221b CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993e87d1-fad7-4496-8c65-ea9f599c8f4d CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa182609-6879-4cfb-adc4-68fea7de8314 CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d4da141-a0df-4fa3-89a8-8aefcb7e6651 CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e522abb1-8ad0-489c-8ab5-158abd46b372 CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e9d5c3-9f15-417d-b33d-c0defe6cefbf CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8643a753-d9be-4a9c-b721-5baa82d864ad CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33be3c36-b65b-472a-a012-b81037dc0c81 CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d91f3452-8a0c-4be9-8ca4-3e0b9ddc6607 CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b5275a-d9fa-430e-b709-601bf63a2500 CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce3dab41-3ed5-40c5-8b9c-caaf428d4b07 CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfaf4fb-bcaf-4cfe-a62c-1e5f5a9975b7 CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ae8d91f-c26a-4dfa-9673-50083916a824 CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918651a1-a611-4e83-9160-145bba2bd0b0 CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de98a980-8999-4e63-9967-2807fbc0891b CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfaa74be-472a-4c6c-8dd3-e4da8e3df541 CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5287ef6-8ae4-43e7-b283-eea9183c2594 CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bcf94ea-c80a-4534-8086-ca5dd08161d6 CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8d1740f-4d00-48c3-9732-a81147756372 CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42656a9a-76b3-429a-928b-b61cce3e6b33 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f37d48f1-79bf-46b4-94dc-f64bc36b4140 CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5ce849-7017-48ee-a2e8-9e225ac9696a CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74e813b1-58f8-49a6-aee0-0a4f68dd0515 CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d7fbe2-7db6-4ed0-8900-a1bbdbca603d CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71377089-1a39-49ef-b5c1-a1a5be88ace8 CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b266ed-6638-454e-9867-f542e06aa6e9 CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5496dc7e-8e8c-41ba-8496-bf5e15c82efb CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316b2000-b304-4640-82af-5b5b44a1a050 CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b967145-6f26-4e3a-8a37-803b0357e85d CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b28f058-f554-4967-9bb8-6fcbdb51ae89 CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6de84e9b-8011-497c-a49b-e1126aa6b117 CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 161fc4e2-8096-4231-95e8-f8f69f86dbb7 CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a7b193a-5a2e-45d8-8878-8192a1cccd1d CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141833b8-ea2c-48a1-a155-54d122087fea CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3237c780-1975-42c7-b121-5617aeb4b721 CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d0447f-050b-41ce-8cfc-7ce00c908bd6 CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fdd54ac-888b-49cf-bf5f-6e050ab91bd7 CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8ee37b-8117-4be8-af74-2243977ae4b9 CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f1125df-f677-4225-af1b-7a0f5b8501f7 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb4ea2c-3a21-4a48-af11-3304de8cc8cf CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 069ea4a9-80e6-46e1-befb-5e624fe2136a CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b94f158-6ecb-4b8a-b40a-23d403cead30 CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67697167-f4ba-42a5-8076-2d7ba12199a3 CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33af9016-6219-4f2c-88c6-cb663ae747d6 CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a514f988-84e6-4169-bab7-58df74ff2165 CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c69775-42e8-456d-abb3-202387d0c2a4 CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be61b77a-805f-495c-b641-1a59d7243987 CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26f43a4-8f85-4373-80e6-422f0f806e12 CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ad60e84-64dc-496e-b3d2-32cfac1d9276 CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86189760-bb9d-4f38-80cd-6829ecbc127c CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen beecd2b1-77a3-4d2a-be00-caf6a45a3adb CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855e5f33-2c04-47de-9e7c-d293c1359f58 CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e4de143-e084-4f16-9090-c155412f8cfe CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3d417e-9f79-4539-beb2-2dc45cbf1593 CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e788eb54-65e3-41fc-bc0d-8788deb71a19 CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268bb76c-861b-41f5-868d-837d802d9663 CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 622253bb-492f-4bfc-b8cf-384858228e12 CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c5bf208-35b1-4597-8611-bce300837083 CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb271c6c-4572-4b84-8371-651bc0d304b8 CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca04c83d-29e3-418d-8e4b-3c02d4fb6d5e CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5546c4cd-edc8-45c6-ad61-831cdfa7f535 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df388a5b-5a26-466f-bbf9-d9927767eca8 CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6556e814-ecd1-4f2a-9def-cc21c49705a3 CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f06bfe29-913b-4f30-bdb9-f3c8f199234e CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a4a5337-35c8-4b3d-a56a-99492c596503 CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83753f60-3778-4224-b6fb-26ff6b965e64 CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bef0d82f-386f-4b4c-bd3f-3aed842fceaf CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946f0dd4-1b6c-4d57-847e-dab73d049f04 CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4b6b200-9a68-4b4a-9475-92bbd6ec4e7c CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0dbde6-b0ad-4d5b-b7ff-cf0199162fe2 CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3008c4d-ce4d-4a7b-b3db-5dc693923a96 CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f860486-7de4-4949-96dd-c60d12029ebe CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94e90ae4-4370-4efc-b1ec-ac04eaae0380 CLINVAR:288505 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ccc7d6-b09f-453b-a5ab-667e34e761cf CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1dad37c-526e-46b0-b088-56427042d8d1 CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbeafe6-0349-403f-af7c-07afa0b8ff91 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb94a4a1-3a05-4c62-95b2-326321547b52 CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8ff827-d8a4-44b0-b688-17be22690514 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad075eca-109f-44cc-859a-7eb39971aff5 CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84273804-1df2-49e2-a6bc-dcad96db3080 CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e596e449-b164-4c91-9954-baee2f31cba8 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96240c19-35de-4d41-81fe-24b62f558195 CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88d93907-0efa-4fad-87a9-2305e537c1f0 CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb84c81-e095-4cc5-9c20-468c1db60c3b CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7824f0c-c944-4a16-a2ee-2a6a8107bb37 CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02445b58-039e-42a4-a44c-6fcb03d9d73c CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f97b449-7de8-4785-b8c2-9d6bc88b633d CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f56228a-f243-4fcf-8c60-929ae31dd0de CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2b6f40c-f1bc-4dbb-bc70-541c3571c12f CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a657cb-44ad-4f01-8a4c-ad21ec78517b CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2570c680-0be1-4893-942c-c79c1d41e111 CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a69918b-16c1-44e6-9d37-767048237d1c CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95367831-0286-4f17-90e6-663f20bb0297 CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213598b7-caf8-4089-8ed4-a6aa647de011 CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a47650cf-00fd-4ef7-b897-ca159fa866be CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ece177-1014-4e9a-bbb5-afa78ca99d91 CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dce08c7b-b78c-4147-a906-72105ac29446 CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4efb562-d40b-4965-9f17-74831d6b2756 CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ee69a27-5d94-4368-a6ba-9526539e3d3d CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635461b3-125b-4a29-8e92-f40af5e60cd2 CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 034de161-f118-49e5-a742-9aeb40122ad6 CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e033066-fb90-4403-8695-199ccb905b3d CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4658d754-5c97-4f89-a23a-70d3ce1a3c96 CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de0e63c-b270-462c-97ae-aea6ec444489 CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5d47d6e-2fc7-4839-8cca-de5d19cd8e27 CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a608512-1e68-4aa1-83dd-d3eaf71d405e CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e4f35aa-fdde-4909-8472-c960a7c0161d CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2992fcd2-3082-4795-8e85-1e58b3b1b454 CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46e7d56b-f009-4d37-8c8e-0556ee0ff33f CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4705c5c6-8712-4926-919b-997526e70260 CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55631648-fb7c-45c0-9232-1b0adc41dd38 CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6913f1a-d28a-43e5-aa1b-9d8db30f28a1 CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b0212c0-2488-4256-8237-d9e16acebeea CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c0810a3-c112-4ecc-a3b3-35a67f43171b CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d4bd3aa-ef08-45f1-995c-23a08aed5667 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2cfe7a-4a14-4a77-bc17-07e0279ca909 CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e22124c-ed9c-4dd1-8f44-b4048eb8a2d3 CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4919dad5-9821-4050-a07c-6cf767b9092f CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d61c95d6-1605-4a71-9c44-736268c288ee CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd8fd88-fc93-43b3-9d94-0bff3258589b CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f6c48f3-49c8-4924-9684-ffc02632d498 CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd8c11df-b52b-4ad1-83ee-33b6caed16e7 CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b4a8f30-ecbb-416e-b198-a61ccbff3e17 CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8debb9-3642-499a-94c0-ea4679131deb CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b2879b8-4bf4-4799-9c80-6d2aacdfcd11 CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f8a32e-8f66-4c59-9f60-5bcdd8ab05e7 CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75d2527a-d247-45e8-8b51-93276c0022ff CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112f8722-401c-496f-b838-0337d6af0ad9 CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f43aa32-5cda-4f83-9b31-78d9a8849ff7 CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61fae71-9e27-4669-8d4f-db243e35bc23 CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffe4a6f3-dd26-4044-820e-ce884ef66405 CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae42ef42-c923-4f91-9d42-85150c0893ed CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c41e0c87-5076-4fc3-978d-030fca1992f0 CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06193707-1284-4f48-bb5c-481538b5df16 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01469646-5053-408b-a5ff-c9f1408bf2ae CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd5f0b0-9350-49a2-94f4-573ae999feee CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bf2f9f2-2707-4404-8191-2fd419d762fc CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eead0355-2f31-42a0-8299-a5037399ab3c CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e07eb4b-ba5e-4a22-9264-93d73ae3ecac CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a02c53d4-c95c-4c14-92dc-f0bf3adb1530 CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6eb3b7fc-223a-4947-8044-e5f1b72e12dc CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176ab0c3-05c1-4901-98e9-f4aae6b6bf05 CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a85c6013-ac1a-4b1f-8f50-8fabf34eb47e CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be30a1da-bb5d-437c-9553-439cec9b6fcf CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f83461d4-6c13-4a44-9ea2-71ca80a7231c CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b5ab41-f143-4546-a556-9cbe0f28adb7 CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5102c70e-0373-4350-90a7-e414ff6e9b90 CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49799d8-dda8-4f99-bbce-9c06cbb00aa4 CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aec11fb2-4c65-4beb-bbec-c8e88b249e2b CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06ed95e-befe-47ab-8d69-b655448741e9 CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d26ac06e-d43c-4c86-9a68-4901e9534101 CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79e9d8b-9a67-47d6-b52b-ca5dacbf3382 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ce3227f-fe4e-4956-90af-a7513f23183d CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8dd67bb-09b1-4f3c-9d72-bdef3f7b74a9 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5e6270d-4639-4134-82da-5d7619a61c6c CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a5fd8e-aa35-4121-bd57-7adaf90c6697 CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18d28291-fb92-4bd8-80b9-a7fe7faabc40 CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a8f840-138b-4f1a-a770-28354f480c90 CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eef2e836-e352-4ce4-adb2-f8537a03f59c CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038dbb96-17ee-445c-811a-45dc2e8dda9f CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94c263f0-819b-476f-89b2-dd6bfeadee72 CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f178aef-0736-4027-af1a-dca7fc6137ac CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6b722ad-e76e-4bb0-854d-f2df66176cde CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43727d73-5b8e-4f8f-8651-0de4bdf4daf9 CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e392ae8-8c29-4198-ac88-bb80e24a8eb8 CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71384c81-59b0-48eb-a643-fc35223621dd CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7eb800d-2b97-4174-a906-2eb3b4ac5bee CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6204a92-5864-4c64-a665-0e278422d15c CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d2ef573-a488-4086-b2a7-61979d21c4cd CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb2e7d7-a4e0-48fd-b1a0-0d8b3f8f60b4 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebb44372-8902-4d14-9f79-76fe78800a71 CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f06c175-8d15-4134-9190-bf89cf62f439 CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b5c499d-7576-49d5-ab5c-2c289a326781 CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9645ecc3-fc84-4058-a6de-33827f406b58 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a37bd77e-a4b9-45a1-b9f9-4acec446784c CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf8f228-7fa3-4a1b-99cd-610f5693855c CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc915efc-a155-4c1f-877d-cfe8790be1ed CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a599564-3ae2-4fa6-bd03-c208612a0c82 CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d6c8281-c379-4a33-9b34-27f1b4198818 CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61a1ae2-c342-4afa-aa43-afa50b5fa572 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abcb129c-b9b1-4dfc-b231-f559be4854d0 CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b03fbb-075c-438d-8070-a5bd613b9515 CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc72af61-4c90-4b40-859b-be433dacc4b4 CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467e6f9e-f564-4421-8452-49edf6f211f0 CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c165645b-819f-4922-8685-5f5934d95590 CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027b8b13-86d5-4e04-b14c-964b24edf09d CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b7325cd-2afb-480e-8778-7a7cd485d85f CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12209d7c-2b06-453f-9b46-4fa9b094ea2e CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2040baa-eac0-47fd-a600-2cdd43e7bf5d CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4263ec74-2f41-4949-a7c4-635318afebf4 CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34f3299b-b38c-449b-a74e-dd3815c145ac CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919463ad-b0cc-4899-8c51-66e189d0abe7 CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d69fdb53-392e-4163-86bf-fdf3ca63dd9c CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238d2763-b24a-4806-9aaa-3ce6281a19db CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c448500-a430-48de-ab9d-66abb1473045 CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53136b36-cf42-4383-809b-6babf14c00d0 CLINVAR:141771 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 399e4d73-a4ff-4d64-97c0-cf7ce95447b9 CLINVAR:141771 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c103f6-8370-4951-b060-011c4f01964c CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ad1643e-412b-49f4-8b0a-9e43cd6f846d CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb3deda-3338-41f2-952c-125fad01dad2 CLINVAR:135912 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 870d1937-a73e-48e5-a79f-3fa3ad0543fc CLINVAR:135912 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168b6980-e0cc-4402-b109-b3324d921c04 CLINVAR:301423 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8858a252-99f4-403e-8c2e-fa71de25e7be CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169f11f1-6a81-4715-a6d2-eb9bb582f5fe CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c874443-bde4-4a28-b8a5-6e3427827cad CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547e7395-835b-44f6-805a-9156bbe67cc4 CLINVAR:189414 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e8a51f3-c58b-4061-8567-621f445be28d CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609eb41a-fc28-433f-b279-c72c647d0043 CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c93825f4-98c3-4119-b3e7-07d721787f33 CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0e82ef-7ca9-4d4b-b635-2b53d48cc420 CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8477146b-f31e-403b-a3f3-4dca51e2a68f CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635b7303-0531-49a9-a82a-4ea892e20e8a CLINVAR:127663 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d6be9ed-e768-4585-a6e1-da2332b2d8e5 CLINVAR:127663 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb3ce0cf-daae-4627-b76b-a5c22f8f4163 CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 984da2d9-edcf-43f3-a661-d13916018a80 CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e2c5d7-251f-4c56-846d-75993e070b73 CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 950f553f-df21-4dbf-83cb-c33686fb7518 CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2bb7d0-b6be-4828-bc9e-28bfa4252668 CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eecb5939-baef-4069-b8be-66aecfe91286 CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a0a5ee-f082-4ae3-b184-4c1b25ad5a89 CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a8afe9a-38f2-46a3-830d-b56193cd9c37 CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf599a0-5890-4bd2-9157-25b9d3058d7b CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29d04c01-acea-4071-84d4-102db7189baf CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb14690f-2122-4149-8113-9bdd12f47131 CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f064ae2-41b5-4993-ac26-d05347e38cde CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015e5a96-f592-4dac-97f5-aa62e9c7e585 CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed625878-5bc1-433f-b101-f6aa907a3888 CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc99d35-8092-47fa-a571-6853062ea14e CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 118aedf5-e732-4211-8ed5-98b2207dde27 CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0993b47b-8662-4f2f-a7d3-1848f4f72acc CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d33490ae-ea6f-4b7a-81f7-87b13a990219 CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3535ec4-1614-4935-bf49-d3cdf13e2670 CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d65d1a3a-cdab-4bc1-a291-b81fb67ed1d8 CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f45df6-6f0c-40d6-9502-e8a473c18ee5 CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d9b7a2d-41f8-4a68-84d8-bda81aeacbc0 CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e9c060-14fa-4c0d-9660-d46e22220eb9 CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 363bfee6-60f0-44b2-8bb9-99c62cb0f738 CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ae5697-2a43-45fb-8ffb-d6549a3dc5f0 CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58b6d392-246f-4a5d-bf83-4f3ea8c10743 CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8b96000-ac02-4b37-94c0-e2a5424151a0 CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d348f7b-3351-4233-8a13-ac34111e9cdc CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273abcec-c65c-470a-b965-d3546c96c818 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d22e3f76-eb17-41f9-be8c-b8d28379b8b7 CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbb0c321-2ed8-45b0-9210-2eb03c874f58 CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eef79451-7fa8-48e5-a9fd-231855d13230 CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6349928d-040c-49d7-b382-c05c6f30adcb CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b6fde28-8d8b-490a-8bcd-5b8dd1cbf7d4 CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40fcf35-16bd-4394-a848-7a8ca0a6e332 CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53b04608-5b2e-4a08-96b0-733bc511e20f CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d080b75-2273-490c-a6a6-d07ae8524983 CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecb86e4b-bce0-46a1-ab9c-1c9c2ee44ae4 CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2018ffd-2ebe-4a28-9644-23bb869f68d2 CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8beaac6-4b3c-4018-809e-c0876d6d1e33 CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e5abb3-b57d-48b8-8f2c-51f3d6c53210 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24f35deb-1d7e-4c3d-85d9-627df745d015 CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c6be78-0bbe-4dad-9d9c-cf86fda048a6 CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e2ebd49-ca82-40df-bccf-7b54994b6931 CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ec0abb-138a-42f3-ae82-7c4f816be401 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d689019a-8841-43f0-8444-506759981e18 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e337d39-4648-484c-8767-72f662d1d134 CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f143be7f-2acc-429e-a991-4edeaafe7504 CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327dd7c9-d307-4e4e-a9aa-52d3091295fe CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5ee1266-b91c-4c9f-bda2-7a802a4caa8a CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 400051a7-4177-42bf-b318-9e209d32b420 CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bbea3eb1-ceeb-4890-9545-7f5d4e1a4f54 CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92429e68-27a1-4bd8-a2c9-74e74e133f21 CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11685792-b020-4325-8481-576e044bc1ea CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d456af9-4701-4885-b8ec-0e8563b159bc CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51dbc96a-3885-41c0-907d-e9cc4f9df900 CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71219006-e649-4cb3-8408-efb4a4ffb575 CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3a67901-b7a8-4553-810e-69b4bec98adc CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85bcedd-c070-4fb7-92ad-af9b98edbff4 CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d1c1dda-17ca-467f-96fc-20808e2f903b CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4afa60ad-aaac-43ba-b825-1b7e42daa0a6 CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee7fc3e6-e4eb-4beb-8203-160773d07779 CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8906c2f3-f4a5-40b3-8037-45c7934c215a CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen accdee5a-2a84-450a-9643-209cbcedd200 CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82125341-40a7-4a53-a685-3ce8b8b85496 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd3a195f-4896-4db6-b7b7-b9c7830ee324 CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef5c0b05-db24-4f59-ac18-6fee31ccb67e CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54d5d60e-e3a2-40a9-ae9e-49710797a0e4 CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cb6a2e-dca9-4b84-98f4-16e93d72943d CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd1a3b04-082c-425b-9741-b3db93dbdd2e CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f64176-5350-42d6-ac5d-2b1f95d63e33 CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbe4c8ee-7eee-42e0-b6d6-7b7214f7204e CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 589b9473-9a60-4a26-b62d-fc2686646fa1 CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cc9b935-c803-4a39-8792-9dcbfdde5483 CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0517d2ad-41c8-4149-bcb6-e5434bb12da1 CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb7fed38-56d5-44dc-9a4b-0f336ac5298a CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7115f4c0-4a13-46e4-b79d-e85d7c0d9e18 CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25091734-65d9-4f42-8afe-d6337b3629b4 CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 905dbe0e-2b64-440e-b00a-fabf3bc417f6 CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f70798e3-8438-4b91-94fb-0a1ff68cc2f5 CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612f4c43-24dc-4f84-b6c0-4a6609a5ef8b CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 764b0efb-eb55-41eb-920e-bd4e5cc76f93 CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09e28f2-ba99-43ab-9134-d78e54b20a4a CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c0b1fd4-4712-48e0-83b6-0d958ed4708c CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e210c076-f263-426b-a44d-b77b47514998 CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39bbe2fc-0f7a-491d-ad8b-3d82db140995 CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cec5163-e037-4e77-8097-c96c18613268 CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64424696-8a17-4dff-b791-e9472e0f162b CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f8fff6-3413-4edc-a3cc-80193bff5bce CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18dcd292-677b-47a5-922c-4f7d93a2542d CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ffe856-7571-4287-ab72-407f150090ad CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9182d614-c885-4f49-a730-5fc7bc8dcde0 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ed2a42-b122-41b0-8de7-1ea4e3c08501 CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59140d04-66e5-47dd-b88a-1480996ed805 CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f01555e-b103-4a59-957a-ca5cc089b994 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcca61c0-e0d2-47f3-a658-0cc5d73c3c05 CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b726ae-82ac-4cda-8d7b-991dafa25b84 CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 670af966-dfdc-4f67-a904-96e9c9ef5296 CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee55269-149d-4137-8e06-1064e6cb356f CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00187157-236f-40ea-8331-e409e92b0c52 CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf97c740-9b0d-45d3-9589-2a3d4fa91379 CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f48bb77-4e7d-45e1-a71a-9f096e45c78c CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee74043-ed97-4983-a058-eed7f1b19527 CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4716b5b-854b-493b-8045-899ace91761d CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156b2708-0c65-4dd0-92cc-d8a53f207da1 CLINVAR:224753 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d033182-d8ec-4655-8490-862f9b4b798f CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7aaf85-87ed-43d5-b59e-fc1e69eaa620 CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9414691a-dc89-44da-86ae-57dc165a7a12 CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74aacd2d-3a9f-4b15-afcb-3fbd74303504 CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66ccb410-84a3-4882-b225-2aa85739e2ce CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb73e92-6025-4ce5-afa3-2785067252d9 CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df6db844-60b8-4418-859a-901abe63c441 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a88379f-81c5-49f9-863d-899d30b06a6b CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca0ebd0d-4338-4ab8-a079-10b1195ed39f CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21f0ae7b-aa21-49bd-b7c3-4eb2a8519407 CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5927229f-5d29-4587-9b4e-e361d91b25c0 CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f563be9-5462-4141-bb0b-83f86f9a99f3 CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da580a9f-63ce-4f69-a1d7-f446607ddf42 CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e2ccca-1457-4058-aa95-da178cd51bfa CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a892091-da6f-4751-b8b8-dec372e67487 CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf89f0ae-6ae4-4adf-97e3-231709d6f914 CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f42f22e-0a4e-4025-9169-f050fc592685 CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0434e3b-05c3-4ebe-9e29-8234d87d56e3 CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47bf7e28-4716-416d-9b77-48ccd7d1a0b6 CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b42c57-c46f-453b-8a87-2a3209690097 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d43d04ac-1468-4621-9637-f7cd7a760863 CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9b790a-2111-406d-9eaf-2b200f7217f8 CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 075641c6-6e89-42c3-bb3a-6a642ff07d4d CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf72d799-fbc6-4ca1-a3a0-96f86bc1fd1f CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f4555a6-dce3-46a0-9fdb-576cd3d4bc2d CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb16517-e725-48ba-a1a0-265c9817b46c CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fac67151-19f8-441f-9877-292a0b5e4afd CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5232af0-252e-4989-94c0-0acf74699054 CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f269b9be-0663-470b-a41c-4f1af83a709f CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06fcdff8-e1f3-405a-b155-abe95532b5e1 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9d3b3b5-dd2e-41be-919b-96aacf9c338b CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b96c8c6-f869-4490-a4cb-8cec652f29bd CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 352ddcc7-a401-4851-a47f-cea4a1d3bc05 CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d54364-b30d-4756-b76d-74042656b735 CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c27de6c-f2f4-471f-8925-932fc29362b0 CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b520ba4-2c32-42b3-a439-c889404b1dd4 CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e7cd85e-dc94-4e37-a96e-7826ccb7105e CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8002bb9c-e814-4b93-abad-a228f605b1eb CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc402ae4-6312-489a-aef6-86bb7fba95e4 CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2422cdc0-ff13-4130-8e53-7fb265fb69db CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1865253e-6500-4edc-b562-bcadb2db751a CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69003ad3-cd07-4c02-9abd-d9553d656a3c CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb1a06f3-f843-4f28-a05e-46c263ec405f CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77103aa7-9e0f-4014-af76-a3209326b5c9 CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04216ef4-0bc4-421b-b853-a6e87656e008 CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5409cae-ff29-4a98-939a-2f10bdb7db7e CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9c0fa76-6c7b-441d-9e97-fd2384259943 CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde53d38-a010-4d56-808c-d3546d2d9088 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e126d6bc-7d5c-4374-94be-64e571a083f3 CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7aa2b1e-a308-4d51-a631-d60fa1724cdc CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43eab626-1f92-4b46-a7a0-9b72dc000688 CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 960b6566-9f7a-49d8-9603-81c313aa1073 CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a56dc2f9-dc1a-41f6-bebc-1bd9117404ab CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d177d401-98bd-4067-99a1-6fbac577ac5f CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b127f9de-60b5-4d36-9956-0af8d3ebb14d CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb225659-5a4a-4b2f-a41e-d483e9e54850 CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e57334fb-99fe-49af-ac90-139d066380d1 CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e19383-e989-4e48-91e2-b5301f545761 CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c2eddc3-f2d5-46a0-bafc-e09f235102d0 CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599a0b44-0cdc-4201-8ec2-caaa19e09d16 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f147a0d-64ea-4354-9e42-bd403608accc CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc1126a-0c33-48e1-9b63-e25dea94e7a2 CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a02ac545-ae29-485b-b269-5228abfc03f1 CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7dd83d4-11f3-49d1-a79a-9684396dd59c CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b6e8b99-b9df-4b60-895a-705ebffe77c7 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e163e6-4c0e-4dab-ba83-c0fcc9c998b5 CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c583afa-eb16-4454-9d35-0b302a6183e6 CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac6b6ba-b48d-4c5a-b16d-dc1027c59b73 CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 671656c7-11be-4289-8424-1d507566a1de CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc7d2346-eba0-4ada-b32c-c00f03277642 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3cd604a-e108-4f27-a982-40c22d840362 CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca935cf-81c6-42dc-881e-f869da891dfe CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94157116-c72f-4ac6-8cdf-1ac072166a82 CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7541d5e0-853d-41b6-b9d3-63f0026d5d9f CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a733302-19a6-42e1-8981-7ded5c94aba8 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc276d9-4cb6-46c1-b5e3-2fd736cb5a6f CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e686056d-ab27-44c8-988a-a95b3579bf22 CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f55a0d7-a757-4bd6-924a-ab64054d4c92 CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0147fefc-129b-4e28-bfbb-309ed2123a99 CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1648030c-1e05-4f1b-a908-b189774b9f08 CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f506aa6-501e-4e1c-b190-52a095022f7b CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c35769-a1a6-4bea-ab01-b28c01576ef0 CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fdf4825b-c132-4bde-a8cc-0c7f84497b53 CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03476b27-dcc7-45a8-bb17-4d724c1b867f CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c1824d1-f1aa-44c7-934b-8465bb533a9e CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee71a7b-49eb-42f0-95de-0249af2696ef CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a300f41-1341-4812-9993-3185ef7ba88a CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066a17ac-c88e-41fc-b858-dd2dfe56218e CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9e64668-a1e8-48dd-90ab-c345467c3dcd CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610cc021-c5e3-48c2-8596-04cbe3e9b7ab CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea5a429e-56c2-43c8-be09-d9d027f12107 CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec10029e-7ec5-4faf-b856-c930dfb3b39d CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 860414f2-2f2f-4b20-950f-e62d8430dfb7 CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633c8dee-d41b-4c29-8bdf-fba5ab974d10 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbef5cea-ad43-4b95-9120-aa9f965570fb CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bf9aea-1250-4520-9d76-7383be46fbbd CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c616d933-655a-4104-84b0-55d13abb5fa4 CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3234b5-025f-4ab1-8fa8-e93eb8288feb CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f739a0e-a7d7-43cd-a6a6-6e0dbebad56a CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16339c46-4fd0-49d1-9d3f-02b4575ad436 CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f19d3501-bf70-4773-8659-f981553f3fe4 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f0591a-7856-4cd2-924b-6584189f975c CLINVAR:532681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89be62f4-88bc-49a7-9b5d-206f3611e7b7 CLINVAR:532681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ddbda67-52ed-4d4a-ac28-92f3e4cc8d6e CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d3112dc-f0c2-491b-9f76-e6f82c7e0244 CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eca3301-f611-4171-945f-9c7c2845225a CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09ba86d4-762b-4b99-899a-224524c8e5bb CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc290c8b-52bd-4664-828c-a46ad85760a9 CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70e7450a-20c1-4cd4-9915-75da5332c520 CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff767410-21bc-4046-8511-e5e96c55748f CLINVAR:464001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e89fc67-92a9-43fc-a28e-d8199cb025bc CLINVAR:464001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf7a7bf-fb2d-43f8-9f0a-1c0fa8ab2183 CLINVAR:532686 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73082d35-01a2-4442-b44b-c747933b4dbd CLINVAR:532686 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2adc8093-afc0-4e87-90a6-ebe94ca28a14 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cb207af-eb52-4a45-b60c-dfe4d5483718 CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f01d7acb-fc2a-44f7-963a-5b5276e63907 CLINVAR:532682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce2f2098-3762-434f-a5f8-3b1110fe5501 CLINVAR:532682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e97b58-8c1a-4a74-ae2c-3dcfe321e54d CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d8356a5-797c-439d-a137-14e9c21ec717 CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc67e596-badc-4de8-a7c3-a0db869c5ce4 CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92d1e279-4ebb-467b-96d1-372e67f19f1e CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2848be3e-699f-4436-81b5-562ed5ae229c CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8cb2400-9210-4007-9366-48bfeef48b90 CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 989996df-2112-4320-ae9d-6ab4de26c54e CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69d5ee70-e1f6-4a34-a1e7-4b3f4fab26df CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98c5be7-c9e9-46e0-8c03-444bd8b6c79a CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32d529e0-f3b6-416b-af52-8de74928e7bb CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41a53998-abce-4de1-be1c-7399fe2f36ea CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f651c3b5-ea71-4fa4-97fa-5afff89072c0 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e312b02-978b-48a6-88b5-7127abacf207 CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f08a957-cc06-488e-a634-07444e70ba35 CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 131824e1-a68e-4a6c-aa54-1fd7f9e51314 CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 921b716b-38dd-4349-a69d-80432a6f68d7 CLINVAR:183727 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d364926-ff21-4b8e-b850-d2d67ec1aa28 CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 400fc193-f05a-431e-9443-b1d6537fc9c8 CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bebaedc-8191-44f7-b4c0-ff7a383ae059 CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ac4258f-cdfa-4f14-a749-3d8e309cfe89 CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e652e25-07ee-43af-9390-831663b90dff CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06f29b4a-1e39-48cf-b881-805b5f1ffe50 CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a757b7-3247-485d-a2af-2e1088a9f617 CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24be773e-8075-4d27-85b8-3e730440fc07 CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf79ded5-9d33-4886-8dae-bbe4bab902f4 CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb5b030a-1e1e-4476-b29e-68d7c43e24be CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9806ede9-72fa-4d61-8d42-1c50e784d493 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8121d103-cebe-4641-895c-c61680c41315 CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b04bd78-3b68-42ff-8cd3-ce41dea58c06 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60a1fc5b-3908-458a-84c7-dc30dd21bf44 CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd4fe046-9408-45d2-93e9-d780942fb8b7 CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58d26613-1cb3-4e7a-92dc-b92adf2fb178 CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54522042-9d60-47f7-9130-7159d6a05cb9 CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40adead7-e149-475d-8e33-21090040d3ae CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c08449-4da6-4c76-9caf-2692f3241208 CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bacecdc-bdca-4693-9cf7-5a941e8cb85f CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5cda29-9b21-4a33-b5a9-0b2730d4195a CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 090c27ec-2884-4af4-a4de-60fe8ecb646e CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1aba6a-3a7a-4ffb-849f-b132c15d121f CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85807d8a-bd28-411a-93f9-46ca6c5cee74 CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e386067-f8de-4fbd-b0ec-2922a0e73990 CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 497b690a-feef-4905-9efa-55d160d30328 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9395b68-cac0-4fd2-96af-446dc30afb47 CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 641798c6-6a8e-40d2-b018-4d8dff14a18b CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17045e09-ae7b-4667-bd21-3718175d12b2 CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a16050c7-781b-4dca-a87c-254d24bc6da8 CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb9fa9b-026c-4e2a-92b1-692d46d6989f CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c615033-dbb5-43ac-82af-75526c22683c CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa23fa2f-4c93-452c-850e-7cbc934f5ae9 CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3854721-f66c-4908-b9e0-8ebc8d99fe18 CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b5019d-d04f-4ee8-ac0d-fbcfbcc8ac85 CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb49d4ca-0cfe-409f-aa23-ec15344b8575 CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9b9a28-a4c2-43ef-8cf7-38e0e26e401e CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41b60a9a-34a8-4662-aa8b-e79635459ca5 CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34cf0fa1-b7e3-4f5c-8273-b1b80c812e86 CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0df2229-e130-458b-8b62-8099062af8d1 CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88fedf96-2b95-4144-a172-332dc30b0d3c CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57b4c323-22af-4e92-a6d4-1f8616d963f6 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851e202d-a7de-419a-98b1-3d26b5680abc CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8954efce-5233-4c17-8c0c-abeac302a35c CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91958104-7731-447c-8862-d511a0db3242 CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfec2927-294a-4611-b34b-1c37d77ef75c CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c852a9e-012c-4136-b94e-2b826cc18b28 CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 834fd5be-cc2b-4180-b9ac-0425eb2ec1db CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4def8768-a837-4251-9fbe-a7f90faf9e74 CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f21840b-3584-4d12-84c4-2906aa91a48c CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2657fa00-077f-4b09-bbfc-6a7025aea1b0 CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 695903bf-e376-4741-b755-1db8b4808544 CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa620513-e60c-4dfe-8208-0914e25438cf CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a5857f1-a2f1-45cb-bc1d-b82f28fbc975 CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1338916c-d4e9-4da3-aaa1-e87682ff81cd CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f86fe818-2ed4-416a-b363-fbdaa23dffef CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d989375-4c44-4c2a-914d-b3d5347be3af CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de0c2145-5d41-4198-afbd-3c5c9a5d7139 CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa651fc8-248f-42ea-8c0b-02f6c306e9e7 CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9839a73-0fff-418b-9c89-080117d00c1d CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2df8b21-baa1-49bb-9ab2-dc80335b4e46 CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0dfcb3d8-0e9c-412d-9e7e-b775aca5a97f CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9960b804-d5f1-43cd-9e5d-a158ce82aa8b CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87a5745c-8a72-40c5-b5b8-43a20fb865a9 CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af37e5a3-d78f-4ebe-9c60-155bb2659a61 CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2882bd3-e742-406e-920b-99fb9adfa53e CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769716fe-09ac-44cf-8d29-cd9d2cec3b6a CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84edf588-2b8c-4a02-88b3-a68b1f630275 CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17100f42-0c59-4fde-92cc-c5598201ae51 CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cb478d1-5b5e-449c-b162-4dd13dfe1656 CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042a0bb7-297e-46db-b9f9-5e95030314aa CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19ec9dcb-9065-4ee3-ae38-9fc3684384c7 CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50fcb327-657f-432e-925d-665055fff057 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a7017dc-8e63-492b-ac2f-968989e584c6 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f816669-c4de-4597-bc17-4a858d3ea872 CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2689718-df9e-4b31-be8d-5a0f3d35bd82 CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a55ff8c-0113-49e0-aa29-3a09b7c320d6 CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f15f91c9-ef58-46ec-b90f-ddcc219013d8 CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd3e859-af39-4c16-92a1-93124679d31c CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99bc2b58-4c4e-4f3e-b6f1-4a60c1a6f42f CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c307501-a1c5-425f-9a38-8f0499eeeb29 CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f12b3df4-1ced-42e7-b93c-6d546e8529e9 CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f28cab-4108-4497-90b6-d92fa1955bbc CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d4576c6-c888-4ff7-bbd8-7c49d7b03863 CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f32057-1047-43a9-b769-337c31afced2 CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf2cbf82-5351-44ba-8171-58b6156a2605 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcfdfb61-a9fa-4a98-9098-9493c0f5b59a CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0112a6c7-183c-463f-bd29-a8853a25ed1a CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39acc1b8-8c1e-4f0c-8995-38a4172995ca CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19565f50-0374-48f6-8821-92509694bbaa CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6181fc0-7548-4e8d-9479-d53e1134aa1e CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06332a5c-e3b8-46f5-af00-a6e1fefe26b2 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d793edb6-5287-4629-8469-0c95e4c7338d CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53fc673c-265e-4f58-a9c1-e0b6cd3c0439 CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06c3036-64a6-4a63-bffb-9515d8dd979a CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 992f3f5c-5ab4-435c-a4a7-3c4ecb062f70 CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7227d7e8-f1a4-4bca-b6ef-642947b24055 CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d79d5984-30bc-4d8f-b66e-ea2d8adde8c0 CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8396786-cf3e-4ec5-bb5b-c7d53dd989ce CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca0b646a-4278-484a-b531-29c051f9b1c3 CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36355194-e4c3-4ba0-a033-0105fa07e2f4 CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc78dd8c-d19e-4131-a88d-4b266cf34644 CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8e0d71-5ae3-4071-badc-6df756f198ec CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb031f7f-483b-4695-b1ff-cefd0cce033b CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3272c20-d6de-4ae8-bd9c-c04341f991e1 CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e889660e-614b-4ab6-a618-52d39b681802 CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fcafa9-2fd1-46c7-9420-d35933eec223 CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98063d60-78f9-4eae-9a66-7a4216b46074 CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be94f52-08bb-44ad-8a0f-3f3091218689 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b082cfea-5029-4550-93f6-6148734e56c6 CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f54acd8-7727-41e7-9339-8d5ce822ebc4 CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81fda89b-33b9-42d5-9e2f-ae4ed09741af CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d489a9-0674-4904-b566-aedfc4beba47 CLINVAR:280446 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a50f9e12-f761-4f1d-b260-a83f6df2ad68 CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c77cee2b-7bbd-49e9-9dc3-afaef4773887 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17caca26-7b8c-4a66-a935-6e1332ce329c CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa198134-dc2c-4ea9-859f-e634caacb823 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64e66466-8cee-4ad4-b772-02d91851140d CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec84e23-0e3b-48b0-8a6e-b61e2a086329 CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbd9c543-e409-4ec8-b1ac-8454c4bdee1e CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f80e34-0968-4c74-867c-bbcf89f886ca CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e6e9256-d164-4857-8384-7a245892d55a CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14adbd32-7ac3-4eb7-a904-dbd19f614add CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ebb22b8-3821-4d89-a0c8-11bb28a0a695 CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7971c02-4b43-4fa3-b782-b382ea160f41 CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b1c9b8e-450f-4844-af3f-fc7d8ebd16ab CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b50fbd-1731-4e3d-9a20-b4b5e7804a01 CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3db9873e-106d-438f-aad6-921f963023d4 CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460eb48a-d2cc-4417-bab5-afe04d1b393e CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c42dfa6-ab89-4668-ba19-c40c588a0369 CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023f17c9-684e-474a-b72b-0bd2cac5c0f5 CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 481df539-edb2-4b0a-a45c-17bf51bcaf8c CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05371906-25ee-4568-b42f-2a6c76f03e55 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 097fd53d-667f-445a-a78d-53c3ddbde73d CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3d70676-64a5-43c3-be88-fc1cc4f2d747 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc1ee2d9-5297-4b8f-b7da-8cfd31470c90 CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22d5173-2e7a-4e6b-aa3d-f79b568cbc0f CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42b5c13a-22c9-4943-8de1-0a6698968b57 CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3c2b4b-25bd-4a9d-9cb4-12f40c3b472b CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f417e02-a663-4ebb-8798-453369327b94 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8a7798-e18a-429f-8690-c728221703d8 CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3be4190e-d3c3-4066-9fb7-29ba8b65ab4d CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e42bf611-9263-4803-a075-0ef3d7379680 CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b35e6b6c-4f73-444f-97f7-737bd9bf9e13 CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df06fded-4df3-44c3-94e7-5645eadc0de5 CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a58fb82-7950-49db-a09a-7712450eeba1 CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bd0f84-7bdb-4c35-b703-a1836f8f3333 CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afd079c2-b8a6-4f33-ae55-d9d8c0a78ef3 CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba71fcd-6597-4544-a00e-6b646490fc1b CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f7c9198-0e9a-4c1a-a929-a31d4cb1ca75 CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fda1a28-3b9a-4760-bee3-0f2c7a1c5999 CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee7d912b-ff9d-4ce7-9d4d-a58fd74b49a9 CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5c750e-3513-4832-afcd-cc42b70ef228 CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd069798-bd5e-401e-a6ed-64c3c4d6ed3f CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb1a4907-49b9-489e-a685-64eb1872b68d CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5757f94-9dbb-46f6-98a0-41fd3dacd277 CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9aa437-9891-48ed-8d93-b1bf1c574139 CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 491f1c9d-f518-4f1e-bf4b-48d29aa5650e CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0799ef8e-96e8-4d75-9a5c-e0ae0340e771 CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd62eb3f-a847-4f92-bc60-e8c677792813 CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19d51f77-9d12-4cb9-a24d-61a323b67f38 CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04d5bf93-768c-4c11-9887-ad67ffef7a8e CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde8cc8b-a048-4669-832b-bb1a0a307e78 CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21cbb9bf-04e0-44ee-9ed5-cc2ecaac3ade CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1a6f5a-b7b1-4a5f-9268-9f6db4a0c1a0 CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 395b4d40-5cd8-4595-bceb-5a3abaf21c3a CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccea44e0-884d-41f5-9030-2887f0123b4f CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b55c58e3-cf83-4357-8a6e-3cc4750cd60b CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6a288a-0a4b-4f36-9a45-d45f41b03c60 CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d93c138-8351-40d8-8017-4215e2516055 CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b44ceb-8810-4cac-8f2b-aa531cc70dca CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29fcd85b-f86b-41e5-87f1-5b6ab1ab095c CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17c63a5-7afe-4282-8b12-c2555ef35f59 CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44e047db-7ebe-4d3e-a98a-cc14ab7ce1a0 CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac7b59b-8510-4b89-9010-3360e031be70 CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a090bfa-14bb-4f3a-86d1-53d4029bf672 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50123caa-beab-480f-aed6-47d61169f113 CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8810754f-4626-4e8c-9653-40eada45441f CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca21493-f815-4180-9756-3f7293f78737 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4dd4d595-7cc0-4388-9e47-d8af4c42654e CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a7d3791-85fc-4339-8fa7-a22da19857bc CLINVAR:178937 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54940dda-53f3-4584-ae52-1f953e7870b1 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8940a2-dc33-4724-afba-d96900253893 CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a44c61d9-5c89-4e77-938a-a461d8aef68e CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1aae8de-15c4-4f39-9f9a-b5718c6b2f02 CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f51eae8-c206-464d-b835-efc184b3513f CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8770fde7-8daf-413c-9c45-608fd9cd5924 CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36a4ad3f-0433-467e-a0ac-4ed850a62c05 CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ccea9d-1226-44c0-80b5-18aefdebb28e CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a68fc494-71b6-4c03-afaf-16d1d273b7b2 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5413563-d243-4c55-a8b8-6dd819c262ab CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5d83ce1-3859-4114-846f-6d081975ebbb CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6795fb-6c59-4352-a53e-5e7c86652f7b CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen babff5e4-9e1e-4384-a4d2-8892b9c70589 CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc706ff6-5562-4536-ab35-57b380b33aa8 CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 158aa55d-a830-4261-a932-cd42e82650cd CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9a85f3-3f71-441e-9be0-d613087c2b02 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f47cbf12-a1b7-49fe-b8f4-c3be83179dad CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0441c01-938b-40b2-8034-63c6cad05719 CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e690136-c86e-4c7a-882c-d04c75fcedbe CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c90b22-d9e2-4f81-8562-54c571459dcf CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f29161d7-14b2-4b9a-8863-18c4f41c946a CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf116f2e-c873-457f-a8da-4acd95911a0a CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5893074-16ff-4e66-bf1f-29185aa29360 CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14cac99-a9ac-4494-b45d-dd9f98137adf CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fb94504-a366-49b9-afcf-fe49447cd06b CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab66f9ec-9c15-4717-a597-e325317b0c42 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 955d9f4b-302f-43e0-893e-61980cfe3654 CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48f89660-df08-4f3d-8f12-e5ac2cd140e2 CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43ce0c7c-323c-4f2a-9952-054604663fdd CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2adc6c6-29e2-41dd-99ee-a79dcee8e391 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9235b1be-b133-4e30-8eac-fe5bae421d14 CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a76c18d9-b16d-4e29-9525-c8decdac5291 CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d1f6990-848c-46ad-afab-ed504afa8319 CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0162cab-fc2d-44f9-88d6-dc325d999afc CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da2dd20b-dd7a-489f-b52f-7a48d2e9bbfb CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd81d17-4ac1-4327-9228-c9c4dda1bc87 CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5982c6f0-df42-4efd-8dd0-09311a9e76dd CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eca83b5-24ae-44a2-929a-bca362bcbf95 CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3849affd-0f7d-4b53-bbaa-bc62a22b9685 CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603de052-d41e-4f73-84d2-63d5214dfc9a CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c64b55e-b534-416f-991e-88b0f9f6509b CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7868fb-8310-45cc-89e1-2afa4749f4f4 CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93e181da-6bae-4ec9-ac9f-1a1c7081b9b8 CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b46618-3481-43ec-ba71-3234996aa81e CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fe824ee-8080-4000-a3d8-e8c8fe20668a CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09bd6b2-40d1-4c41-a07e-c7800a0cdfd1 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c956184-56b1-49bf-9a05-efd37747b0b9 CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83dc8bc5-4463-446c-9be9-d4a7f97ef402 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6af5a8c3-7fd6-47b7-9231-7fba82d29054 CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62c0b3b-d436-4a8c-9a4f-af1d2f2bc0a3 CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0d02dbc-c140-43fe-8132-d13308ac597e CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7a9019-18f4-48ad-945f-1ea7711d6425 CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5e029fc-cfaa-48a6-abfd-91af9b9e7ef0 CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6039911-912a-4522-8d2d-dfdffe6e1484 CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83882881-615d-41c6-a492-af52515980fd CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1f4c26-ab86-474c-9da6-978eac0c1a60 CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9ad0eec-0614-4a18-b40a-959786d83979 CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167eb1c5-8a20-428c-93a0-f8bc2ab3b6f5 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77b50d75-8f05-4cec-8a52-0fc6d8d60751 CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ad3962-4257-4b2f-bd80-fe19b7764f8b CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f593fe38-8c7a-4a38-b60f-2ac612c665b2 CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee476bd-fc0c-4faa-b467-b6e14876fcf3 CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d232f02-895d-429d-9f79-df82a6030da9 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d39b6e-bc8d-4ca6-b95e-c29b53a6138c CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75e02288-dcc7-4d9c-8d9b-de9cdc25cfa5 CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8863586b-008d-4084-bbdb-3f0651877137 CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54dca968-6306-4812-af01-10e00988affe CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf5abf5-25bf-4c0a-a1a8-5b216472dacd CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41eb3ffa-410b-454e-9866-3e8831bd8432 CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 718c4e57-c354-4f76-bcc8-737a53089703 CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b02bc6d-fe4d-49fb-81e9-2f21e295488b CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbad68c-12f0-457f-ad5d-e079376d4686 CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 677c96a6-78fa-4324-8365-32a30bca91af CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2537345-9c7e-4789-a924-cb773477490e CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30d060d1-caaf-4645-b117-024af9b9ef59 CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f222ae49-5c7a-4169-ac6f-78d687d507ec CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5eb8e80-2911-459e-816c-d62aace41a29 CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caee1240-2c8c-4710-9bb6-9befe02cbf6c CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40b85a8a-20b3-4b75-80f7-c3bee0cef232 CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d219be2c-a027-4011-8e26-290bf3d8efe6 CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d166e151-bed2-44f7-89a7-769cc6eb308e CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769bd26c-5b1e-4299-b414-144c2c98c802 CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e3bf0a7-725c-4176-a17e-adb0cf9cd5aa CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f04666c-7260-4e42-8d29-b460ee2ce45f CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbc62cd5-47a6-4745-8a21-3edc0b21f91b CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821b7f89-09d1-488b-89fc-c1718d519c0a CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b1c39fd-f99a-44a3-8b81-9f5b7319ca19 CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b27305-7e3e-44b8-a543-5c10ef1201cc CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 160107d0-5ac9-4bee-a313-9fa69fe90d90 CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1439a865-a18d-40b5-8967-ade2f57d2dd5 CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c68510b4-bd77-4d11-8d77-c160ea0b7f01 CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122e50f1-c3fd-4948-8230-28bfe8860bb9 CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d7b8575-3eea-4f33-a274-3bf52f3b5d3d CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592efbf1-af81-4d00-ac8c-0d06b0b68688 CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7886c51c-85b6-46d7-92e7-b3963ae619c1 CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353565bc-6c9f-47f6-a1da-a19295e17535 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa94d95f-69e2-4da6-bbb3-ee677dd46a03 CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4aa278f-fda1-440e-b24d-3d13961c85a5 CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6d717f7-638a-473b-a9a0-fe1652799916 CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a7c1bb-68df-4e96-b42d-e106025c54a6 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b00e65f4-3b93-4e75-af95-ef3b583b1131 CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d0406d4-7f94-41cb-bdbc-cc4928c45d33 CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f61e0233-e4e5-432e-8a50-e7e00fb7c6e3 CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac35f0b-4629-4197-824f-cdc613fff44d CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c51dc8a-1516-4831-8ddb-049acf08a398 CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dadc5f18-3fdf-4c21-8b76-3e1cfa43aecf CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 878b50d2-3ec6-4b5c-95a9-8ec6ffdb6555 CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e46eb4-c5fc-4508-8905-2e000b1c14f9 CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58505eab-4c77-483e-b594-94a79178510b CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a101a8b-9cfa-435e-8dae-d242b3b0f301 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b4f4b99-6df8-4b37-b83c-68534eecf7cb CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a763de2-ea5d-408c-bdd9-eec3a7a547b8 CLINVAR:141228 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96f57c17-c4f7-4b31-9550-24bcf3335be9 CLINVAR:141228 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13388f3f-92e2-4ed8-b914-b17a9e03fe1f CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ada9e2a-d9ab-48b1-95c4-f60ba360e4e3 CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ffce73-7f81-4ab6-a0fd-95a5814a4ec5 CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c775963-ac6e-4ac2-80bc-99c017606fd9 CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68f0e23-a216-4c8d-959a-30b66e41ebb3 CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31424129-443d-42f1-af85-4b4a9dcba87d CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae46b30-3fcf-4c29-b450-ed1332622d0e CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 094a704f-4e6d-4c16-b05e-2cc3e9db8316 CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e43b3ace-3263-48c1-89ae-3528fc2d6037 CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aefb070f-7fa0-46ae-8718-7e1bad978b9d CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d735420a-bf2e-4e46-b893-e3860f55ed95 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d3c62a9-e1df-4009-8b0e-48324ed29e17 CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 750096c1-5199-4bda-989d-0007d02983cc CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ded67c5-d9ed-441c-a842-1d0aec8e4b4c CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0588314e-9c8d-4b3f-bf0a-a4bf26308887 CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db5a6dfb-b657-445a-ba4e-49b6075bf787 CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba8ee82-42d4-4a21-9689-46f4b98cf24e CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16f460b8-6559-412f-99ae-a5427e6dbd2c CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e34044-b8ff-4e6c-baa1-6064d849453b CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c597d5bd-1ed9-44aa-9932-e0dabbd722aa CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0007e365-7461-4d0c-91cd-312b454fe77e CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb123789-d44b-4248-9094-48bd3258f732 CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b41b94-270a-4e3a-bca8-ec2eb615181e CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11db796e-6e11-4d9a-ad36-7b550b92cea5 CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f0d15f-0115-4680-8ed0-7e3e0832f651 CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca6a0da6-fa70-4efe-945b-8520ad67d72a CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a6458bc-010f-44e5-8917-bea31312966b CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96bbfbe3-72a9-4c45-96a7-6bc92578e8ef CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383423a6-2e8f-41bc-8334-cdefdcda7388 CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9994a816-bb1c-40f2-a269-9c42c304ea5c CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a3365b5-1e2f-4653-a544-039c4d0aa695 CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60615960-5b04-45cb-99bb-cd0afbb6e56e CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29c1fc0-b4e2-450c-9b7d-5a5ef64e70ed CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39180382-ffe7-422a-b5f7-d7cc5002ced1 CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac49673-8b98-48bd-8877-c2332af39b6d CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f156d0d1-3fa6-48eb-b6c9-2c4b7892ed2d CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b198614f-1e59-4ae4-b3db-a5312ce7f5b1 CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bbb32763-0a54-4e05-832a-73e22d1f203a CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22257077-3b19-4991-be7a-161786eee2ea CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 411bccfb-c435-4950-88c2-4da52fc021cd CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fdbc14e-061a-4eec-b5ed-2fa3680905da CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 962d2057-cdd5-46cd-bc0d-36daf57e9a6e CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4928f824-51da-4eab-9ede-ff56054befb8 CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24ffaf71-567a-48f9-81a7-a23ce92cb220 CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8ac548-6eeb-48f5-b98e-508f2f2beecb CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6fe42ea-8a73-4dac-a1bd-ff2e9bfdf488 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebcb72d6-744e-49e6-b3ac-6de17f35ca68 CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83c443e6-f00f-428b-b508-8fc4f97bd3cf CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba1cdda-8f2c-47b7-8e36-85f71aa1a6ce CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9992f28e-7f8f-4073-9973-3e378d62dad8 CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468d5a80-3827-4cd4-9b70-0a7388b3da5a CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f9e8122-85ad-4764-bec5-9f53cd42d1c0 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 733ac249-ebbb-46b9-98b9-76062eac4e36 CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 809c7b7c-8aeb-4a36-ae14-4129d207e78a CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ce481b-0cd7-45ed-9f3d-f5abba1a24cb CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b364ee0-9aaf-4c90-8d1f-9ba776610edf CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84eb6ba9-043f-47e1-99d8-c09307bd2b07 CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d54b51a-e993-4479-8251-f4c75a410ceb CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a828252-2ab2-481b-8dac-8094f4a8aa90 CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 031ab0f0-2141-46cf-83c6-f1ae219b36b2 CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23f82c77-8a1f-4834-8015-71b532f1cc70 CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c7190bf-d951-4723-8cd4-3628f1567299 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37154a86-3050-40a8-b034-cf2c9d5731f4 CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d278005-5270-4bd3-9125-367d7ad65845 CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec465c85-9a63-4628-8161-afb89a59febe CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 047ae6a2-39db-4003-af0a-5061b4d08ea9 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd07792-6e97-46d9-9cf5-8806311b17fb CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 189e44bb-5548-48fe-ac47-1f71867b4aed CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cda4f2-e0da-4f8e-8225-9125fc4364b8 CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b73e78d2-7a37-4ee0-97f7-75b7090dad80 CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d60858e-c12f-4755-9ef0-46d903932f1a CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be4da90d-ae0f-4c6b-8988-ed68ca18450e CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84705299-5e90-4f28-a8ae-19fa2d05ed65 CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 878cd569-80fd-4224-a559-4093cd81d0bd CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7a5cb9-37c1-4b84-befd-35070aa62c98 CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f12fe99e-63e0-4f88-b5f0-8fc5ef3f201e CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8891d950-ca7a-4652-b9cc-efb99bf0146b CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75e28741-1387-462c-9d62-c3a43691b893 CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce0ff7ef-776e-4215-be2e-8da63d738688 CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94e8fa02-82c0-4877-95ac-a66bf292c70c CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c108e5-c6b7-49a3-9a55-6449e881fc11 CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e29906af-aaf6-4451-82a5-37a90443e572 CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a5aaad-5143-409b-b7b3-70c50759a4f0 CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdd49b37-d9b2-45de-8436-fee0ea0ab3c5 CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76f4c0d-e25d-48fe-b13b-de08737e07c9 CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc44e098-0cd0-4387-bfe1-81b6162601d9 CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de11e38-5d7d-4892-9020-d456bd7e5df4 CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5ba9150-1e0a-44c9-85a9-a5d23f3eacac CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3033c0-77e9-4a2a-b056-b467ff349faf CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5960b48-51b1-4d32-afe8-7a0ce00ba111 CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a91f89-4170-4f00-94f8-38f3d62d90f3 CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aac6fd1c-3ef4-46f6-bfb5-a09144f0f5d8 CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297265fd-467d-4451-a655-bf87396f33dd CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d70852f1-1fc7-4687-a90e-457ad4870284 CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d27d3ae4-6dda-447a-8d27-c17e521d4f21 CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92320699-ee39-46a4-9da0-63783c682be5 CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11820156-70fb-4813-bc49-49372e102106 CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09e308bf-3af0-4673-8db1-ffaf4352b4b1 CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e7cbbf0-7f65-4844-a48b-7983ca66264f CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bc67f0a-264c-4352-acd0-a2a03325eeee CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd88fc5-e548-4df4-ae84-323b18e0f7d7 CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c54fd6a4-a58c-4a8a-ab6c-edc986b1a040 CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6dd21a-00f6-43de-9493-126e0e7230cb CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f6cee67-5178-439a-8510-3944052b3327 CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eaab36c-13e6-457d-be41-464a8ae97ecc CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1434456-d9e3-43d9-87b3-d8f6114de287 CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4238a203-8e84-4501-a765-76ad8ad34ec4 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32795e3f-4552-4b03-a7f7-c7a012633288 CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf4f927-3015-4b70-a0c7-5966c659b28f CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98dc3f3e-8004-4908-bfce-661517c83cc8 CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae7bb22-b687-4abf-a608-1ea19b515ac9 CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 673ce905-f1c2-4328-a2ed-bebd212aa73f CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e72987a-b22f-43bd-87a3-8c93b2d0ba1c CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b88ac147-3c29-4711-af91-57d0a86ab1f1 CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7709008d-75c4-4e35-80a4-22d7cfecfb8e CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e89e0648-f51a-4e10-a3c8-f1a92eb3ae41 CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4dedfe8-d270-41f7-b6a0-e32564898be5 CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e08f1a1-9607-497b-91fe-4233e604fc24 CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8cafa17-8531-46fb-8909-30ae45e39a62 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70c19ef4-f2e1-4370-8aca-f5c211544fc2 CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 728f937e-b2ea-43d8-819d-38dc5c48c9e0 CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6ba6fb8-066f-4e96-9144-ec8c2b12eab9 CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28856216-d41b-4c67-947e-b8832d935207 CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8e26f98-1df2-4500-9a17-8a2846ac9bed CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d2f96d-b54e-497c-a92c-20f25586fcf1 CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen daddcd1b-1841-4650-806a-c362dbb7327c CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36cd224f-fd5b-4d33-9565-af3efd1c98f8 CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b45e7f0f-6f85-49b4-8d9f-f1ef557635b5 CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721d6d17-153b-4fb8-ac09-e4125e79f2fa CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2268aa1e-6c8e-4445-a3e1-eadb8c61725b CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977ab369-d18e-4b57-9937-4ca7198ca550 CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14ae7dc2-cf3e-46ad-9490-1a7de1ae55f8 CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2664ab-a79a-46a7-a1de-be874c77f646 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02baf147-98b3-4d6f-9b97-b5877209e1ae CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46885087-768e-4a06-83eb-ef9593a740b4 CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53c193ad-854e-4bc5-8572-0dd49fd38da6 CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9dea4c7-13bc-4fc4-aa51-00a879ccc40f CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae556341-1a33-4656-8bbc-6141c8d32b6a CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1014f7a1-606e-4c0d-be82-61f69cd37584 CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36e5df14-eb17-4aa1-859f-d9288b1c2a6b CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4d8af9-2ce5-4ab4-956a-d364a1213b40 CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e10320a2-6713-4fba-bb26-cbc820cb3d5e CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39a4c3e-1a79-46c8-a7c6-48cfe975fb6a CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c36d2fa9-40a7-4098-a62e-9027f32ac8a1 CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e2ecba1-ca7d-4f2b-8f48-50c2ecc864db CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46f6c342-812e-4174-bcb4-edd3e104ccdf CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05bd675e-1167-48ed-9d05-8b27a43a3116 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a17b51e-12ae-44f1-9dd3-1ad6b2145953 CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237e169e-bdf6-4335-be70-2e9d6f4dbfd0 CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a132d8f-8dea-4fac-a2a7-af3756b5f176 CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09aed08-4c6a-4c5d-abb6-ba4aa3dcf09e CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38f89ee6-82c1-4e88-ab75-9898dadb38ca CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 089be30a-6d17-4385-b3bc-2fe684b1adac CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d36cd076-a56e-4695-b098-1d2497c7efbc CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a653be92-6e9b-40da-acbb-6a6c5f7b142e CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26c583b1-a6b8-4965-b506-d2e0d48c74cc CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9e5e95-8408-46d2-b855-47bb076e2610 CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e72ddc5b-0fce-4edc-946a-5e4ea70548de CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a40b59-3462-4e09-b746-72c05278cfa9 CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e84d9536-f414-4aa7-bd09-03291a270450 CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f210bd-4981-46eb-ba57-06296d2d9e83 CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3518a2b-1f4d-425c-aaf7-4c664d03ea59 CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd924e3-f6b0-4e1c-b406-cb4276c89cf4 CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fc5446d-4b78-4dec-bbb6-c3b5c3e2333a CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da09aa0c-5e33-48fd-acb8-3ab16ca9b90f CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f35c608c-084d-42d4-b127-891707eb3952 CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23986b23-e44b-403a-ba77-d8e28461ee27 CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9760cb0-259d-408a-a3c8-842abde3d55e CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f42fa694-53a0-4008-8964-109eac7dcd2a CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f71b7ebb-2ff6-4bf4-98d0-829353319306 CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27078b85-3266-4a3d-84cd-c3051247df57 CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81c5bb5a-af15-446f-b353-985411a13da7 CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3870d89b-177b-4371-9afb-407c1d9d7e2b CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e364d7be-78ea-4911-8ca8-aa53e98ec922 CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f967aba-6eaa-47b2-ae17-90716d1f0d95 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 698393ea-0b8e-4f26-bb81-0bd83de1d892 CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98de109d-cf04-428b-928f-759ec652d4d4 CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 562e6be3-0b7d-4826-90f2-ff0633aa9589 CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8dd3b7-61e8-4542-9ac6-c688338685db CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1853fb7-8712-43cf-8511-586dba45bdec CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae5d42e-1443-48ae-ae0e-ec73762ca501 CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1bd8084-6c18-421c-aa63-d1c6a1b97d81 CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979f832e-5862-4732-b1d9-1bc16a664299 CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c79a6ef-e8e6-40f6-9a07-c965b7ceee23 CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e37ffde7-1196-4338-8e86-824ad0c561f1 CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9c428d9-8a02-48b7-a38c-ccd4e7014375 CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c850cc6f-61ff-4e7d-9bb2-d0741cbb9cc1 CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6349c3a2-f8f2-485a-b5e4-7b324e53a10d CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b829223-cb87-4842-839c-151d7bb6e51b CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8abbf826-6c4b-45e2-8ad4-d214cd03528d CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec91bf3c-97e0-4e9e-8a16-79b8745d310e CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dad5605c-2399-475a-8ace-114965a44844 CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b9e2b7-3cde-4296-8d53-dd41a90d11c2 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f47c433-4c82-4698-a84b-0a7dc41a37ff CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e54a7c-0a07-47de-9261-00c77f72bd06 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac469c3e-f501-4adc-abff-6b13fbc83954 CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2459714a-5ae7-409e-a014-0f8d19f972c8 CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 442f70fe-4781-4e5a-a43f-72a5a4fa511b CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7404c5-356f-4848-80ca-35c3bcb1ad3e CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6dae2e4-2309-40bf-804e-22794228508d CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d192d32a-a3bc-49bd-8700-ef4f844f1dda CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3c70cba-4294-4f5e-8845-1604626e3676 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5841b1-9eb1-438e-af7c-39f0ce19fd35 CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c31459c3-0c94-4c58-a842-0cdb0e129327 CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af088f6-fa03-4964-8168-d6f142474adc CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aca5179b-cd6a-48f8-a2ea-5bc2e93610b3 CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0833688-aaf9-450a-a5b7-003968e9973d CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97cdffb0-46f1-4aa2-a2b2-a965f2c6b72e CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487fd890-9a57-4af9-9735-b1be4c8f5a68 CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d79476ad-271f-4c30-a733-b8b7ba8641d2 CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871345de-9702-44a1-a579-ede0a32f7f26 CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fbe83bc-e93d-4764-b81a-5bc59d4bf508 CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e064cf-dfbd-4402-8ae5-966d1ff3d6d2 CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 634be2be-fa05-4d3a-82db-703cbec4e27a CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b9666e-4ed4-4df4-bb1e-20052ac7d2b9 CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01ca4314-138b-45e5-99ed-00ca50a52f56 CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f7be73-1e5a-47ec-81f5-831ffd4ebfec CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 117d2e6e-c7ef-46f0-9c70-d61ce7767733 CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238b1844-3b7f-49a5-852f-bc8ae831d79f CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27985dfd-2814-44a2-b472-d5198786a36e CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8495788b-fa84-4619-b5f8-4d5e4f0d687a CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69d3b42f-8ed3-4edf-8bf7-6d590dfbd2e6 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07be26f7-74b2-4d61-8e36-77c287d48a02 CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c77a4340-1ce3-47cd-bc10-4fb1457750c4 CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e911642-0115-4ff9-b163-f7a2c44d6f96 CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f2cf9ba-f644-43eb-afb6-0e80232813a8 CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff4363a-0094-4c48-8aeb-8a025c63e9e0 CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97c67d82-46fa-4213-b42a-696510315be0 CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 501651cc-670e-4eda-80b4-cb3c25c34506 CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47500634-e38f-45a6-a52d-e59a86053993 CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a50d78-c61b-4794-8cd1-722354e127a8 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc15f57e-a941-4996-b09f-e08829c425d2 CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ad019a-5de8-4354-a9fe-c42477cd8556 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 278ddc49-b0dd-4c2a-8329-4d74795c9a09 CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e0b470-1acf-4f28-bf15-2403cbd1b137 CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f4f580b-d72a-4c68-8d0d-8f8d74fefd49 CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49558782-e828-4351-9e81-97029a3744f3 CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0158d10c-f956-4dfc-a3a1-2b5f592b4ef3 CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0bd1da-1473-4d01-8ea7-dd719938b2d7 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3e4cbfd-357b-40f3-bcaf-814d6f9ca985 CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa61f4b-10dc-4243-84d1-5eaa5facea74 CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e58061e9-5d74-4b22-9cd2-f7123a3b4c8a CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc3d43dc-a366-4645-81a4-07c9e4dc525a CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e71cc927-9b3f-4850-a21a-c82d20856be3 CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a95a1f3-e496-4bf9-bc5e-7f3ddce596b8 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1743cca2-edcf-4948-bdc4-71785755fe8d CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beffedf8-1e6a-4abf-8bdb-deffd98e836a CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d05ee34-166b-4110-b9c5-488859d0c428 CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58524dd5-016d-4e61-9270-e7e2e5ae2a54 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02c2fc82-811c-4b29-9379-ae2dab2b65d2 CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f11a0b1-4e15-4566-b5fb-fac386102227 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7166dc74-e78f-446b-b519-a7bbae9f7ea0 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b215204-d8f7-49f7-af2a-3fbc973d29b9 CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0ad235d-e0a9-432a-ab3f-98225966a33d CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ca1fd1-0a4b-4e92-9f38-cbf39611ebde CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94669edc-39fd-470e-a2a8-9cc4d6666a16 CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f55b35-0914-493e-87ea-91f4d6fdd31e CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f97087b-d725-485a-a3be-eaa2c5ee24b5 CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b9747a-3684-42fa-b803-9fb3758cda60 CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49dd376e-35de-4d91-8b30-6d60b6ca22f5 CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc424329-ec9a-41be-93a2-f6a0ada65d51 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fff63ec9-baee-480d-a4fa-e3926444cdf2 CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 630658a4-6a44-43a4-91a0-f24fdfc2e8a1 CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f3885c2-4627-4026-bb59-9f52bb02188a CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c903336-412e-4caf-9391-30d6d6ce8143 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e9219f1-b7b4-4d94-ab39-2f8e77121147 CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d173f4-9b54-45dd-aed1-aec17baeaead CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73423319-e6b5-4f3d-946a-06079c7749ea CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30aa88cf-1eae-4a28-95e3-d21d10340935 CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 391bfd01-2a0b-4af6-9fab-f49320cf530a CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c51001a-16b9-4575-8475-6bce8c8e52c6 CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 776db05f-c6e1-42aa-a302-cc8eaca3dbbd CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bcfb828-1881-4b9a-ad4d-ed4524ffaae7 CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ab5394a-1d62-4583-8f28-c6adaff17633 CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b03d40-2f74-4081-8272-9a08e10a2056 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 283d73d1-e577-40c8-b3bc-ac5d8d672097 CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba84f3e-3983-487d-8290-4d68a2a6575d CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2768c287-6ec7-4d50-af22-c0fc9b7df4de CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f47c5bc-bedd-4595-84fa-bff61d3b8d22 CLINVAR:575051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76c963bf-3f1c-49d4-bc03-abe7e0101dc0 CLINVAR:575051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d38c559-4c51-41db-883d-6f93d165e7d0 CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85e7fc37-8d53-483d-a0d3-c67806073f9c CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c42a6b-1d79-4359-b946-1c887b73282f CLINVAR:376021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb195fe5-4e17-4e74-8b76-95f074c345df CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5889a0d2-b61b-4677-a293-985455ae79d2 CLINVAR:464006 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6af20819-61f1-4850-a0fc-b57cfb9fc4a4 CLINVAR:464006 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0640dc92-a4ca-47ff-9f79-ee332253fc36 CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52ccdb9f-9998-42f3-a1bc-0593535e8a1c CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6279f86-a930-41be-9d91-8b777ae3aa6d CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c970b14e-d674-40d7-a4dd-cfc524f855f1 CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2854500-e009-4238-b75a-3b1ff46f0d10 CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f53180ea-1a33-4095-a796-eea1ac2ff49e CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e762c108-061a-4c8a-8b1b-ad20367d6801 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b494e007-b603-401b-8846-024808981257 CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f9f4c2-748b-4320-bd01-281b73142111 CLINVAR:376019 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5517b9ad-fb6c-49ab-a525-7c181bab4cb2 CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32dff8a4-6fb9-480d-bf51-7f976f98b22a CLINVAR:376020 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd718dc2-de6b-48da-85d9-a09c43f8f98c CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e7ad42c-f24d-48ee-aadf-8614a5701110 CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fae87cec-e91f-473c-9cfb-1df55448d00d CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ad9710-4382-48b8-a75d-f3c9b4275c35 CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 082a3995-0e89-4cb9-9eca-5aec10588cc7 CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f982f2ac-c2c5-440f-9720-53ad657eb8dc CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aecf7ae8-4bde-478f-851a-8232bde55d45 CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd8543c-24ba-47f7-8125-0d57a2525643 CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5656e774-848e-4d96-b872-4ef46c341f1f CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f67680ac-52ad-45cc-98e3-e25211d5ee64 CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78cc696d-4739-4a58-8aa1-7c6d6d32a6a3 CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0596eb90-3321-455e-b009-dc970c146b87 CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55b2e02f-5944-4869-940e-3c46e78ddb19 CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa005d8e-7cc2-458e-83c1-9d5bd491a092 CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d66c6de-14a7-4a5a-99a2-6cddea050058 CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9bdafe-98f6-4aad-932b-2bb05a339d33 CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4c4a4a4-f898-46a2-8abc-23615e02123f CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d9cc71-fc30-400e-b2d7-c57c3ce4c22a CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9534d56-38c1-4bbd-af11-7ffdce374af5 CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ba2107-09fa-4e10-8489-ed4d0a3bd6fe CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e3ebe67-d194-41b2-bafc-42a4110ea97b CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0553c361-215a-4342-a8e8-1a9e5e6458bf CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 770e0420-2da8-4140-be26-e76c39dcd213 CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d0f339-ca62-43a1-a011-d8a6595ebb84 CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 714f582a-0f4f-4d0c-a7a5-e38137a760a1 CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3717f6f2-5a3c-49be-9522-3a3187f882b2 CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57084e68-3cb4-47fe-b608-3be214e685e4 CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98c2fca-e790-420d-9fbd-74cd5195e72b CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bebb046e-6f7a-489a-a12c-9188367f7f6c CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d044fe-2a9a-4025-be89-a317a8a69a73 CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ca3dfd4-0c0d-410e-882d-a9a9c18b44f2 CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0bcd2f-ab18-4c1e-8986-17442b01d070 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26469a2f-eb40-4e11-87fb-8258a0e2dc3c CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758a14dc-4e1a-4e47-a4c0-5fec11fe9bff CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8294e810-6b79-4b7a-8ec5-d726c937ae35 CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0d03480-3800-412b-9e2d-2f2f853fd0f8 CLINVAR:953020 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f118d4f-c99b-4e7e-bda3-737b97a14c6e CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e20148fe-ab80-4443-96fe-37df23bd316d CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e385121f-0662-47f0-b477-4e5a8be749ca CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4580a9af-944e-4961-8bd2-a18f845c949a CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a89e061-34b2-4fea-ba49-a22b14aa5ffe CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9198fa-d2e0-4396-bea8-b0ef1f7dba33 CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5299f50-5af2-4e18-a3fb-fa3ed56e633f CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec5f3ab-0f98-4ea1-9f6b-fa68cca73d80 CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94391aeb-a2a1-4c9c-b281-d631c0c7eda7 CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c27a2ce-216c-4bcc-8054-967e8ef85192 CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6146260f-f74f-4fe5-b902-e175471f33ea CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb8d9e4-3bba-48de-b036-5c8adec679ec CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d02f0d77-14ef-48ab-936d-f2f025043c49 CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f3e60e-1b88-4998-8622-35974433e0e7 CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 136ee2c6-2c83-4909-be5f-7b2b5bf214a1 CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8881992-3530-44b4-9102-4d06c891fe70 CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccd2b3fb-c127-491a-bc2c-53e4c45aff84 CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028d5b9b-874c-41ec-b249-b98e35c21ea6 CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e58497a-3a3e-4c57-b2ea-2018ebab205a CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f512847f-5ffa-474f-a337-6a7e885968e2 CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 356a9df7-39de-4776-bf87-d6ee7637f739 CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4dde694-4da6-48d8-90e0-2a11ad58f187 CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fbe4b16-a4d8-447a-88dc-805af5cc5133 CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b5e854-6f88-4825-bdaf-6fd6bd942d39 CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a18efa9-9d30-4197-9f20-0f77ca50834b CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77bbb8cb-c4fb-457a-bba4-3b20994b3927 CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03842f7d-2c59-4fc1-a4ac-8ea79f46bad6 CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4471e67c-e84e-4ec3-bfa9-ef5ae76a1884 CA8623377 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 120ab149-8ae8-4193-b807-5a13f521e70b CA8623377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2dfb2a-fbb1-4a29-b2d7-59c2645e1d1b CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91a4bbc6-9724-41b4-a8a3-ecb7fd63e88b CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed953f9-39b5-4fc4-901b-53a5c84c9aa5 CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0db66737-e432-4264-bba7-8f4e30a9377a CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e9bc9da-eaa6-4a26-9bce-5831f3c1daef CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 960fbe5b-0758-4a9b-93a6-f245d43d3093 CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00310327-b0ce-42b4-9d95-66aaef7bacbd CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ddf08e05-1c4a-4adf-b3fc-55f391c630a1 CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efdb5adf-ed1d-4ece-9348-12e66221ed22 CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8738d4f2-6dd2-431a-aed5-4de284d92760 CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d73ddcdd-72d1-48c8-ac4b-0fcf27d1def5 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b724fa7-693b-4c5c-bcea-12162d334b6f CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738838d3-8b7d-4d8f-b385-39b27fa73f77 CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cde05c78-9c3a-456d-abe7-8cf03d438573 CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ea46ea-de23-44ca-aac7-9326967b8b9f CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 049fb267-0230-4253-a52b-baf77b51292a CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a693f52d-fac2-474d-8474-04ea27703252 CA400031666 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24300174-6cec-4706-9ada-6de89fef6a49 CA400031666 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86400b0-b746-4b80-a881-cb0b1779cbba CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9087969-13cc-4f51-af09-8b8b15e67b88 CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158ffc28-1b03-40c4-9119-5ae5a635a6b5 CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac77f355-6da7-45f6-b175-93f9ce686acf CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5923d6c7-2e91-4db8-98e6-2c475aede83e CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae0dcba6-ac5c-4752-898c-02e4be48baf7 CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c82c56-ef1e-4532-8a82-a0b5432f0c4a CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee28c31e-e070-4cbb-9367-7be56414088d CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd757c5e-f21f-4a2b-b4e4-025d00897366 CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58716135-43ab-4898-ba8a-c67b9793f07e CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f914ab09-c558-441b-97f1-bc352b04590f CLINVAR:953027 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 606dc0ab-bdfc-4db9-8dc2-b2a2f819933b CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80abb08b-bb13-401c-a49b-65733a30a19b CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbd6e14f-79f7-4050-9810-cc866d3adbd9 CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45525144-f2a2-4346-988a-f85e9d711238 CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f9526ee-40fe-4afe-a7c4-0b8aca04699f CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2d0208-1942-4d19-9bbe-7f817b11ba92 CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e20d725-4e17-48ba-aa19-ad181762aaa9 CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f08ff9-10e9-4a87-a1d7-e5239d8fdafc CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 112ea9b1-8793-4f2a-bb8d-94f382c45192 CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561cf1d5-2960-4f9c-817a-d7a1541620fd CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce6aeaa7-c8ed-44a1-bab6-efcc2da306fd CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32abcab5-b3ea-4729-9517-404c5561307d CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff39b2b2-af72-48ec-819b-8ea185f8af2f CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3df0d4-24e3-4728-89eb-b1d1b10a9fc4 CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2011be5-2bba-4e1f-998f-6b31b34688ec CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bea3ee6-1707-4ff8-a3c4-b0933a86c98a CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22f452a1-3f53-4138-bb06-ee01fe87b497 CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a63719b-e4c2-45a1-b799-6de3be0b486c CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1dcf5338-936e-4308-b4dc-17217c928719 CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490e4719-0e9e-46d8-afbe-fe14af09283b CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54f55f46-e2b5-41eb-935c-6408477760f4 CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80050018-d1ce-4752-aa1e-53ab53969971 CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bb65310-e412-4fa5-8429-68898ab8b13a CLINVAR:2900 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b0baab-2028-4e22-a43e-18a104223004 CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8083444e-4793-4c87-9ecd-113365378bd4 CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c1165a-9e1e-4e44-92a3-ba21b0fb28cb CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 927eff03-1250-42ca-9bfa-d1170e0a966c CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74cb6753-7589-4836-ae14-cdaf6b803345 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba75fcea-ac3e-44f6-8067-78cdfcfd0ddc CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5403655-9ab0-45c6-bddc-2a29cef5b3a1 CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2bdca23-c7c7-4e84-ba4b-d45868a2ea17 CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242e0cb8-812b-4c10-80e7-4b9fe9e581fc CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3ab97ff-185a-4e99-bedc-4aacd10f67b2 CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be517bd4-f07e-4db0-9068-8bfce56ab5a4 CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60829bd5-0656-4f2b-a3e9-2d2e119182bb CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1482a7b7-e08b-46ea-b06a-e437084860a2 CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1361ba19-fc8d-48ff-bab3-f304c5e4ea74 CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc41821-63e7-4a6b-bd83-b98a37eae2ca CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40aa4cf3-33f1-4715-9def-dcda27904b26 CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8c029b-b275-47fe-8307-28dd745d0cab CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abb717bf-b1bb-4615-9806-7965633b1300 CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6125a7b-1cb2-4e8b-b07a-e1fa10d14365 CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f036bceb-4a36-42a7-a34f-99cf59caef1f CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca3a0e5e-56d4-4c6d-8398-ade957b73770 CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc89c915-b2c3-4649-b8bc-5b4035cd1e30 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932aea2b-601f-432b-82f4-81cbb7771486 CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c15015b7-2a4a-454b-8d68-a7804d447b45 CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ac7d2d-ce72-49bb-bf72-8e5f2bdc54e1 CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbe66964-c10a-406f-9359-0fa7744acaec CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5ecf422-3372-40e6-9350-e300e8598e8d CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0cda3258-5688-4096-ba05-a28bde16be48 CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f7f3a2c-aa37-4457-8ee8-bffd42c06589 CLINVAR:953029 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e719458d-9be6-482f-bc65-dd11cd834993 CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f90e9b0-e268-4d30-878e-7b2e5e030d80 CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e99d0d8-8156-4fa5-b829-d2b4332d832a CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff3e92b-0820-4cbe-b452-adad00a8931a CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35e204f4-0909-4552-a9ba-e4a4ed428581 CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b4dff2-51e7-44ea-b741-26c1d68a3d49 CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bf3df08-dcf0-491f-8b02-061fe129af22 CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1115f0b5-4461-45ae-a8fb-04f540b5c377 CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48e9bd18-acc8-4dca-a379-5fbb2428dcef CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a42b766-dccb-49a6-a824-5d1d2dadd70f CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95f7efdc-9cee-4561-a455-2f930c46f090 CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f8aa8b-07ab-488e-aa98-2a8d837fe3d7 CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6024d0d4-a48e-4069-bf22-d6e67580798d CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96985aeb-2b07-4ecf-8894-15621d4eb793 CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de049638-c208-4df7-907b-2470064a9d82 CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3656f9cc-2ef8-43ac-b026-d6bc46c1a833 CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a1403b6-f4bf-4f32-b2e5-8870055e64cd CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e83847-6837-4eb6-9c6b-39ef15295f7f CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17e6dc81-9b19-4c13-846e-2d631d809aa1 CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbebb48a-11df-4f6e-bef1-02b497893c1d CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c9bd5b5-f344-4646-ada7-92ba5b8c98f0 CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ce9e58-b281-4d67-8944-51c19162fc89 CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 142af4ca-d196-4943-b17d-80752528ad52 CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ed347e-ecd6-462e-84de-dd87966bf27b CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48bd4da4-0ed1-428b-8177-362d86a52e58 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc80290-6ff2-46bf-b81b-0b3aaef81f22 CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29acbd88-514d-40ca-ad97-38d70d1c53b2 CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72cf5ceb-3522-4b5a-be6f-e68678f30935 CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e5ce860-71e1-4ac7-80bb-b81a9c335dc3 CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff57796a-486c-4e6c-a3eb-1a4bce5f1f34 CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bcf3786-8027-47d8-9b05-c94f0923024b CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12822093-1b60-48c8-af62-26d397edefcb CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c4e90b7-6afa-4e78-b03e-600125d432f0 CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d86e4b2-b894-424c-810a-eb9e384b9035 CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68969755-9950-4682-8562-81036dbb2f8e CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9224a3d-295b-462e-8cdf-0acc0cfd2b4c CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95c65e97-ff98-426e-bb2d-a475576d4272 CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 334ed3d6-757a-46ee-b422-d84ae3860d0b CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a3910bc-a5e4-4e54-be30-6df7ca4cd309 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e3d3cd-9de8-4d0c-be43-c41031b5c99d CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c500d6b-4259-4ea5-a966-40e611c79517 CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6453672f-6029-469f-a37e-974a90095d3b CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4801760-e9bb-4f14-907e-6d149fe571d7 CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77986c55-1158-410b-94cc-1ffa5a8fd8fd CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e11cd0ef-5ff4-41b0-b88d-a7da5422183e CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e511583-4f49-436c-8d00-175079adda28 CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2013642d-5c6b-40c9-bcdb-c950a46ebb19 CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e4a33c-2827-4f1f-b8b0-eafd7939999c CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d82aafa2-eb98-47bf-9a26-a28bb8227411 CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5648622e-d1ea-4e45-9623-2c26a9e247fe CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12e01c01-a567-4957-936d-c69c133af442 CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28754f88-c55c-4a04-a599-94b9aa1b8087 CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3c92af2-df89-4741-b48b-a0dc681e761c CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e9f0a8-bafd-450a-a563-851e9d447d46 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8d0b525-7b6b-477a-92cf-2a30feed878a CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1abe06-9cbe-4e37-af76-c7dcb2556a79 CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa7885f8-717f-4020-89b0-bdde0fc8db64 CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c961be59-94db-4ed2-81fb-15a930c59b3c CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e93032b-59de-483f-a26a-6aa18c03a873 CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f55db84-9fe9-47c9-ae3d-2b6e615830bd CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5798504-62b1-4290-9b90-0469fce38b10 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc83190-9451-49ad-9aae-9b7783e2af71 CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 253fc9d6-a3ea-4bf1-957d-c50b1bf42bf5 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5da21ed-a01f-447d-912b-1e13c72c2f4e CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07f3fd79-ef51-47b1-ae95-f68b56138295 CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12683745-cf46-4aa1-8d26-48d53b2cd18a CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf8fd85f-c5af-4b1f-ae67-076c0e43992e CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4786dec-f5cc-4bdf-8fc4-97cd71dc2d60 CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b9238eb-1ace-41b9-bcd9-c51fc349ce46 CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcdedef8-877e-4c67-8dae-a44d17113009 CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3afc3526-d8a8-4e37-afa7-ccdbbcf3b424 CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ed153d-bc27-484f-9c50-1ed729f80f9a CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49af8c4c-272c-4d72-9934-91dd55c7e3b8 CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08915bfe-29f7-4ae2-9163-033d79f243e5 CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bcc28fb-5eab-4906-b4de-5fb5f6f33bbc CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8cd7a2-2102-4532-a0f9-58ec741be250 CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 433201f2-9f9b-416d-aaf9-e80878160478 CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba83324-a181-429a-a1e5-394d7bf9acfe CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 626cb166-fed1-4d13-b1d6-e30c6ec1da54 CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f957a88d-95ce-4351-9c18-6a36e549419b CLINVAR:953021 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b9bbd6f-c1df-4038-bbf7-25756d5ae5ca CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c44777-0527-426d-bedf-1aace5e25a71 CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c09f50b-70f0-4232-b984-ce8d3eb3f1e2 CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b522fa4f-1a9c-4db8-bbf3-cac1ef240c0e CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02d9c930-af32-4b98-a078-252fda6fdcdc CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068fc996-3035-4934-8a9c-8d6fd9995f5b CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 587630fa-e0ff-4e27-9a21-e871548b2af0 CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da806b7-ba3b-46b5-95ea-a04ac603ba22 CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2406f424-5fbd-401f-b6b4-8fc4dd57b08d CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381a4bb4-8b9f-48d4-8fbf-30a5d6f59bd3 CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11836139-ff70-4a2c-ac72-b04451accff6 CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770162af-4e6c-4208-ae16-2a9afdad2429 CA400034866 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c19ba7c-e8cc-461b-b96b-7e4b1f4314b8 CA400034866 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce71904-1a16-4c2b-826d-8206623551ae CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6668c4d3-c966-44b4-82d6-73aeac8fbd4f CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8274dd-429e-44c8-ab59-04728947971a CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04ebc056-84c0-4688-92db-378ce80b19ab CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f00e2aee-554f-45ea-a941-ccf19550035d CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c323692f-a325-487f-a862-a19c70cf0f17 CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc4040e-64e8-4890-9f9f-d753bfba3da0 CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c3bd327-bf24-41b0-bb33-8538dcdb669b CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30630508-5b56-4e16-b965-9771bc9cab18 CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99407afd-a6b4-45b2-88d9-e3a5295d9d0b CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e98e9f6-03e1-4211-8271-7badf50120a3 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6686dbbf-86d7-4470-a7bc-be80cf3cfbec CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43b404a-09e9-4669-8fc2-e2b9b985e772 CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0feb562d-efbc-4f49-acaf-ff3c39def0b1 CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c283557-d3bf-4754-b299-aa1d28cf3bda CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 789d9264-4286-4865-84fb-1289606e83a2 CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a46b983d-0281-4dae-be3f-7ccaa5cadd1a CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 737a0fe6-e077-4d97-b1fc-b3a40c1d3608 CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b15181a-d1e5-4bed-9204-138f609030e0 CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adeb8399-3ef1-4030-bbdb-d590d27e1e78 CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac964e2c-58c9-4fed-8744-7263bf79bacc CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23cc340c-1ad6-406b-b9e6-53f8c026d370 CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557e5245-edee-4b5c-b4c1-e2ea035bad68 CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28355712-9763-4ede-9885-ba406358a4f1 CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4026c741-8555-49e7-bd5b-b0c19611a8a6 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6586f53e-7a2a-47af-a728-5131b490bc41 CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d98b42-43b8-4e7b-b966-532be7d60461 CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35d7cd08-7a78-47b3-a44f-0974bb66a7ac CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e66f17-d6fc-433e-b117-c6add87bc87a CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8702da37-5c61-4c3c-a6dc-94faedd0bbb6 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2ad1f3-a02b-4b35-847d-af635ab316c3 CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8401a0a-ff8c-4072-b4aa-b68a613a5c2e CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36a6cd8-04ab-4ee4-83a8-475f85bf94b2 CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ea948d5-ca06-4da8-8fe9-faac214b3ac2 CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe362794-6696-4714-8566-20d23ece310e CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d690c56-35e7-4382-acad-5a2313ce7eaf CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11478e8e-9b18-44ea-b7f0-6d89e77499bb CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 011c895b-9ced-49ca-a107-2b3d22d80b45 CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2caa1a6-e876-4f49-9604-6dc0ed89c679 CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b4382a7-a45c-4aa0-85ac-0d3e851b0bce CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92dca951-836c-4070-9094-a4943465e3fe CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d54b6d6-122a-44c7-a172-98c77a7e22fe CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8231d46c-fda2-42a9-bd05-905bfc9c59cd CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 784d35e0-2ac3-4b40-969b-e38b5cec5ec7 CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0b3a48-da62-4f3d-b92e-86763119da83 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d78dfb1-e9ae-4c24-a81d-41a056a9f550 CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdaf6b4a-eaaf-45e6-a328-004a0ca4034c CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3b7f559-1770-4f6f-b5cb-a9db20b279c1 CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de43bc4-7239-4804-b371-de6a52cad0a3 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82b14bcd-edd6-47fe-a618-79cbd5fce1fb CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70978066-bc13-4695-8e15-d2525aac1574 CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6718e48-d0e8-4c8e-9c9e-d4dc1afa3928 CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b66f0c-f9fd-4d1e-b334-d6fe92b32fb0 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0392bb4-9aed-4308-9880-b1dacd6ad9a5 CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68182e77-0a32-48e8-8245-0cc5a48eccc7 CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b65aa33f-d8c6-4883-ac01-422b99201507 CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b86a023-a22a-4526-8ee0-25e49ecbdbdc CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cacb217-3815-47fd-83b5-af710b1d5ca0 CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80df1e21-7d54-486b-8802-76d9f32f3df4 CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7108b8b-56de-4a2a-8e3d-884388c6d017 CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6c5064-6411-458b-b9aa-7f7eca4bb606 CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a06bab7-179f-4e1d-bd17-b8e9ec26c6d8 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b49d1e9-33f2-4494-bca6-150d931a3426 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 994e0284-94c7-4a87-aeec-e7638a0cd45f CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b46308-e709-4218-8294-c9ea68245464 CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61c8ba7e-212d-40a5-ae87-6ff33cbf653e CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9afb4c-75a7-4277-918d-1aae5ed92843 CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c289bef9-017f-4f37-ae1d-837090a72f54 CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e250fc3-9c55-4908-a920-0a07a0cee104 CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3069475-0a5c-4066-bdb2-883716117e54 CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02759473-8805-4f75-ab95-2104ed7097b4 CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0011b80f-c7eb-43eb-827c-912e373f2bea CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da909c98-54bb-4bc0-a6b5-cd4dd03ab061 CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5afe4c5-0d1a-4d61-b132-136423276ddb CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27130c7a-529a-4877-9711-2f2c99589843 CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4860a87-daca-47fa-bfe5-4aafdb3ed0ce CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2531dfe-c20d-46db-aa0a-0a12b483127c CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25420ded-8cfb-40a2-8afb-e54dc849bc25 CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a778de-a36a-4cf0-a327-eed195587444 CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96a64732-9a1e-4dcc-837c-b24b7206eed3 CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab3bb4d-18b2-43ba-b8e0-4bb98a5828a9 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5bb42ea-3ff2-4849-a718-0665836e5e58 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8551f85-8159-45ef-a91c-e3aff8719154 CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a4d95b3-9574-46d4-aab4-58cf3d83e7d3 CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a186fa-e5a5-4d8a-aceb-4731874f649a CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79ea6776-4bf2-4896-b11d-93b60e4f2789 CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a52124-0527-434e-bbbc-63760747e6a9 CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd15d77f-3793-44f7-8da1-00c80aff81f4 CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59d6d525-4b70-4d49-9f57-3d109dc72ec9 CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d7c76a3-fad2-4fe9-a9ce-fe45ec353d14 CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9fef16-c3c2-458c-84b9-87358f481359 CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a613834-007c-4d20-bcbe-610a272be3a9 CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458c3f9d-da35-4dd4-9006-b0f487e66cc7 CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2751e5a0-29ff-4998-b967-aef6e00b9fd2 CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c6d193-4024-42b9-915b-5f6a8254c447 CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6920258-244b-4c88-83c7-63d262673da1 CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba2243c-7f12-49a6-b9f8-b33a4e8827e0 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85eca2f9-cb87-4520-88d0-babecdfe8d62 CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdf34fe-9fba-46a1-a9e2-910fd046e08f CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 073412fd-76a0-4361-b56c-9de45a44b314 CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ebf4098-bf5b-40bc-b2af-f414f1a0aa03 CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa661344-66e5-412e-8b8a-37de4b9e1d18 CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81dad8a-57e9-4a1d-8ae8-dd392630fa03 CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78e5c34e-e823-455c-8aa8-8e562a196c67 CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca592a17-3ece-4623-834e-4d26d92f2ba3 CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2dcdaf2-5d11-4c54-afb9-6e66517dfbe0 CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7ccb47-91c3-4661-ad2e-b7d347a6af74 CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d228a38-b1ed-40df-ab37-ab59554234b1 CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f3a1c1-263b-4c6a-85e2-5c05d5e67979 CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87435f18-b23c-4d3d-ba99-e09701a74d86 CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7616d68d-6a63-47d3-97af-c2a9ae756fcc CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fd84d33-90f5-4853-86fa-dde6d9d2a5ed CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a320080e-37be-4bca-bddf-dc64fa093482 CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78fa8722-cd85-480f-a260-11b941d649df CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1baf86db-7691-4b5f-90a5-81419bad1493 CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8fff565-7bc6-4cf9-9dc0-f22c4b26e7ec CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1227343-7342-4b98-a5ba-363282f50a1e CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a314a0be-ae79-4e84-a107-f2c16c1b877f CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a4f08b-3ccb-4a86-9e76-5515cde19a6a CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36e3132e-3adb-4902-84c3-6e6deb027b1f CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba01149-6871-4034-b6c6-6863c0f834a0 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9df66753-a2f5-4e47-be00-0fa7c42c08b2 CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0418fbe6-e906-4891-ad73-bac3ed017b23 CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c88454d-e13b-4722-98d1-46a49507bd47 CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047809f4-fe50-49fa-b1ff-0da982d69259 CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1b87f50-0317-45f7-a134-c9524e6f9d7d CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a29b90-5c4a-47ba-9259-7778e2da65ec CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5f01a4d-2905-4584-9833-c807c47ab502 CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9107803a-9d9b-44a5-b936-103fef92e111 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0f704b2-39e7-4398-9100-24da36e05c65 CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f22c5e5-7db7-4bbc-9751-d11dee08664e CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6a7aeb4-74cc-40d2-b9a9-baee9509f72f CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8dc9ff-b3a3-4b54-9b3b-1f8fbabcfd8f CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fead87e2-16f1-46ca-ad85-8fccdbf1f4d7 CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954e3e02-a752-428d-8e9b-7783f5b1b645 CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30f656c5-6677-410e-b531-44f32d39d297 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3633a27b-bbb7-444c-8090-ce65b5d7a4b9 CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 807d6120-a20e-486b-9d4c-92794b0d2fa7 CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07fb4f22-e6cc-40ea-894b-1b101071b911 CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17e63293-f40b-44ac-bdf6-6f85a90f39e6 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470ae498-311c-4a41-b610-41e92613bd40 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e187939e-d467-41ca-b9ed-cb44ea54c712 CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cc1408-f09d-4547-8914-0d4a45fe376f CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01e5ca93-8f18-42bd-bf92-e7b01fb7e74d CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1abff33e-d74f-4b83-8ecd-dcc0af1e5f64 CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81c19f46-9853-4f08-ad94-4d94f4020de2 CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fce9dc35-0470-4594-a7ba-c424369845a2 CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 311ca987-a9d7-4b70-b0b9-b178b15bab81 CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb37c0d-fa3f-4571-b68f-dd3fb776916d CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2a4ddba-de92-4bf2-add5-2352ebf1d1d2 CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f700a5-9acd-47ae-ba4f-58982b801f42 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bb7b78b-46e4-41df-b2ca-eca2fc696f69 CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a3eb49-18cf-4f19-bb75-13f1d38b5112 CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ce7cbf8-7e79-4400-b0c8-045da4e94566 CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4694a1d4-7a03-4ed0-a017-ada686ffbf23 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07c873c5-6571-4a5b-88df-277fd153e392 CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e15e7a-1ff0-465f-994c-2bf5d3b5160a CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fde8669-06f0-4347-82a0-cc4f52c6a77a CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f58daa1-76eb-4622-aaf2-861133013897 CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 439a6a5d-653b-48ae-a567-21b8b8385935 CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e328f541-294f-4e4c-8612-29750aae9a47 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6bf7fc4-e703-48c6-b0f3-000f66af54b9 CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c03996b-8278-4c57-ba23-2907b6e3f4da CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0410920-8c64-4f20-92bd-93d1c4dc2e24 CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 057a6558-94ff-47b9-8f00-63262a90b4b6 CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01793669-f9df-419e-93e0-9d8b47245f5c CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc87c3d9-50c4-42a4-bc49-187f2b667bc2 CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c8c911a-1b7f-466d-b67c-7a079ed10f81 CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e3553b-d51a-4866-88d5-7b525a1ccd8e CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8407f4e3-caf1-4644-9323-eeff0aa1f5d9 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad1b6096-83f2-46e5-96d1-3da3dade5920 CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c027e3ec-b75c-43ca-8513-cdeee7274b03 CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091166c1-23ac-4c87-936a-cd59f3b85cc8 CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f4a1cf9-940f-4e6d-ba43-0aaf3aacf974 CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9528209b-7fd5-4b49-9907-7b871002ec59 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e37a3dda-7e95-42d9-8d83-4cb436aeed10 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d977bebb-aa22-4c8d-b093-2ab71d63ef36 CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83a7547d-6732-4fb7-b7e9-e5c591b39468 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdaa9599-f51f-49a6-884c-62fbf754507f CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cf15b6e-745d-4d92-8d2a-7bcfa095dafa CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ca3389-7264-49f6-902f-ff48db898886 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da0fb5b8-73a7-4acb-9966-23283da2f904 CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a9cfa2-d7b6-4c78-bd14-4d270169d218 CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f324a72-e64e-466a-8c9a-4af335d94d40 CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e456e7-a0cb-4893-967e-fabae83464cd CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3c0bf47-aab4-4430-822e-24ff7f1d6044 CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840b2d9d-6626-4fe0-8965-9e7e8ba0ab37 CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e166add3-7aa9-4d83-99ee-eed53796245f CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c648c67d-38ca-4a0f-b05a-36f3f5538a81 CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d1aa1b9-253e-412e-9898-aa6e8bd2249a CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a529f4e6-785b-4ace-9acf-91ede54e3e5a CLINVAR:1214000 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4715dea-b741-44a2-bea1-8928d0158397 CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c359459e-db2a-45eb-8ea0-20a27212d35c CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d3cdd6a-9bd2-454d-b33a-6c8f2022538b CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1a0ec9-79ce-4c78-8493-1dcd6968b628 CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a04a5313-7c0f-4a3e-b4da-9698aa40c34d CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a136da4e-a27a-49da-bbd7-b7929d61b57a CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d01b622-fb04-461c-b149-0fc98458d42b CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b41fdd-f024-48f4-bd6f-8dd7f27d7c37 CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95a51c3c-9470-407d-a09e-2047cf3edfc9 CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc12b5a-a69a-48ac-b376-ebcd179ab27b CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa91d01d-63ee-4220-abb9-b7f48fcdf485 CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c742e6-e0be-4b4b-a61a-42e62b6faab7 CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3d95061-b1c8-41d4-a40d-c9b98cc3ff96 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad894866-da0b-4470-a433-45f6caf252ce CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1bb830c-d110-4040-8378-ea7d2db7afab CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bc3f7f-db9a-44bb-bb80-e7e545d9e6c7 CLINVAR:448182 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edb5fae5-25fe-43fb-ba4b-87b1d656455c CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a164e54e-4c2f-41b5-878c-1b84bacad582 CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34d2ee61-a51d-4965-9c3a-3387313f6e11 CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7461ef11-ff02-4125-b511-95632b87a3bd CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a864305c-ab0b-4a79-8be2-c4530ae83c60 CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28acd5b5-ab18-427c-9cf0-0ea0d95bc816 CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56f08425-f5a4-42d6-826c-2959a789bd60 CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60620c0-8aa2-42eb-a4a9-13db2aa00f09 CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e58ad182-7abb-4b6f-824a-3909a01e0218 CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb995bc9-5039-43e8-8387-66d345756e37 CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b16176a0-2a02-4dd8-9070-bb6ab6ad916d CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7f8a84-6291-44cd-9f88-193378587e17 CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd69bf02-265c-4c6f-acc5-343103f8afb8 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9c860b3-c2f7-42e4-9cd0-4d7a080f481d CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8027cc04-c6f8-42ac-a22d-78476d237dbb CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e63f07a8-352d-4f90-b0af-9d98f8164753 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 379d244c-4996-45f1-9971-be6a73111343 CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52cadf3-037d-439d-b773-1c618070a1cc CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b46372d5-994f-498e-8c02-110999509c91 CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e79737-d06b-43dd-88e8-388b73fde6ca CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e273199c-4d62-45b8-9695-24c239a698b8 CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81056ca5-7783-4ca9-9d2c-c756c51d5862 CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5847c09-d7ca-48e4-9f7c-0abce23bc337 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ed6d2b-35a6-4835-8bb4-d17e0f6029bf CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7377e4e0-1598-47fe-b7ad-e62150558413 CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f123d38-b030-4975-b60b-23b109f621ca CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68e6f585-4e58-4d8d-ac47-2149d09b49dc CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d24639-1057-4605-aa50-6915e8c3d154 CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebb6ad5f-be4c-4b40-98c0-f34ba5601b79 CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ab350f7-3f09-48a6-bebf-3e2f970910c9 CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13c5cf4e-73ab-4275-bac9-0685ac28a6af CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34bfff65-7cc6-415e-aa35-74b9815fec49 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 218bf991-24e2-4efb-80db-815c2bdbe7ac CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd2de15-35a3-4ffd-9d65-efce4df23013 CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ddbc572-8170-4ac3-b42b-5778e0d8b2a1 CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe0cb50-7499-4364-8659-127c93b0a4fe CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9358be8-66cc-41ec-8d8f-636babe202ec CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb9dc4f-a2f0-4aa2-96e7-0e48b1d97140 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b85b20d-41dd-4704-a440-2cb721547d2d CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c111f21-97f7-4395-8942-0a89379334ff CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d74f2374-7e6b-4db6-bacf-b9c41fb0656e CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a7506d-a512-4e8c-b1a3-eb8909a7d4c3 CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95b506e8-7114-4090-b33a-ab70f0458fd6 CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8aa6901-0ff2-4656-91a0-25ee3d46eaf9 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73a3915e-09e2-48b1-9b87-757a8778ac57 CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86902559-ab89-49d2-953e-0e0480a37790 CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9cd2c2a-5269-4729-87d2-f52031de9860 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3703b3a-6109-4666-bb75-52db2bf900ae CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b089cf8f-763f-4f81-bc2a-2f405224bcd1 CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ee3aab-3331-4ad8-bee2-8a221613fc2b CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f74684ed-4469-473a-a1c3-b325038fdd85 CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf8ec50-94d9-47db-9f3d-f60e4d329235 CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f4c481f-572d-473e-9b14-6290b3fe5616 CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab690544-a5ca-431f-b71f-59ca9855b771 CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee7f9816-d0ca-4413-9426-2e87b094cfe5 CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f0c84e-725a-474e-8ec1-8c43e4838d1f CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00db7c25-6743-4dd8-aae7-c4b7ca0c35e6 CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e90b408-cb2d-4e18-9cf3-5f723eb252df CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11ef437d-705c-4fc8-9697-5ac8c4e10650 CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0857d83c-a696-4709-bc0c-2667594afa02 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a56a36c9-b736-4f70-8204-c37f26e0f075 CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e3b2ba-7b8b-4b34-b17c-e17d55deb754 CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecc5ede4-cefe-431a-9fba-cd7ed5eabb6a CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90137d1-e399-43e7-94f5-4b039ced9bff CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7eccf04-0815-4d16-a675-fcd7e7219ca9 CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d26fbe09-5a22-4d7a-b6fb-55ffcfffa448 CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec5dbe9f-74c7-47eb-98f4-2d28aa8e9bee CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e33113d-76df-4aeb-bf5b-c0363979e6c1 CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 264b4a8e-0dee-4c83-bc50-16eb748634b8 CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f452bd7-b998-4873-8ba2-5506e1bba4e0 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4415e67b-4df7-4d41-9cd1-6ea081dfaa36 CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14eacc3-f245-437a-94c6-6fa6c535d0de CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99fe10e1-3a8b-4815-8603-cc930299fc94 CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab77d3f5-9630-4b15-8365-8eb887906bcd CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c772e5cb-a239-4745-8f2f-2fd8eb955077 CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4831555f-112c-4d10-9209-43a3cfd744f2 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e9bdede-e09c-4530-a9d3-f3699fcaad4a CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429d8fb3-dc05-4f2e-a517-dacce8016897 CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bf69ca0-e356-4ee6-a28b-173c74ca8b8f CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea88a6e-da0e-4f58-86f4-dca6d8d4abe4 CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94993b6c-3bde-4ef8-aa7d-edbc5511399c CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac63c28-ab09-49ad-b180-42a0489e2708 CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bd7dc3a-80f9-402f-baa9-fb62759fbd43 CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e5a772-9c7f-4e25-8dba-1cac22529fc0 CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3aaca57f-73e2-46ff-9d9d-0db3c8a02104 CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0e021d-cfeb-4ca6-b1ad-7d6fe97f943b CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14dd5721-57d0-4c79-a237-9a8f0f291232 CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2072194-ceec-4277-a735-758751dcaa69 CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6957208-e7c3-483e-a646-a9cd548a1b08 CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1feb5faa-18b6-447d-bcd3-f204a7c41cad CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71285996-f615-4060-bf3b-36aaa0125547 CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1693dc-567c-4786-b173-1216ed03a47d CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f7acc53-7723-4629-8ff7-d080895a4ce5 CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7362bb-987f-46b2-8f78-f41e3e982438 CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7edb82c4-18ff-4de3-99fd-385aaae580c1 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5a6f61-52c9-408c-9cf4-9ecd0a53ac8e CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65039325-d802-40b5-ad66-94fb3af9f2b2 CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a05f018-1641-450a-ad18-a09807429a92 CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a00afef-3531-4064-8029-6184a8912d39 CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2b82c4-80d7-498a-8431-6042b6555e9c CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5015b688-26ee-4b87-b7f4-8ad5942e73d8 CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9448517-5f5f-492f-9461-6e4d262f2860 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9c4246f-16ef-4fcd-97fd-227d91515f1c CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0655f091-6021-4c1a-9fd2-5b5f3bed826e CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8818f479-0a10-4c5a-a856-7d82aa53362f CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec616ec7-7c83-4295-b7db-900837de96c5 CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9a36522-ae00-4ff8-a37a-aefb1892cf58 CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3e3a5e-d8b3-45a5-99a1-7be2628dd7a7 CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe84dd33-57b7-4598-be74-63ea02ee7546 CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b8c898-57bb-4814-951a-e7640689965b CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4288600-fe01-4232-b61d-6eb49272bf24 CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b908a5e8-f789-49b0-a70b-25f3f974f473 CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86911966-27a1-47a1-abac-423ed8a311fb CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8852d0a-02a7-47dd-85e2-4aa28a9725fb CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 620de978-ba37-4e72-a8b4-2d33beabf88d CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cf0ef2-82bc-47de-93fc-16c0c34c78b1 CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51fb2b15-544a-444c-8214-a45a89642447 CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3a6b18f-56a8-4044-be02-344d817240e6 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fb54f30-2d0e-4c4b-87f0-c6ad7d91339d CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 189d5e08-f0e3-4671-bff5-a30d450a3dac CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 077d4550-4753-4583-8cd7-130ff2e14ab1 CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14732d86-edbe-46e3-a6c7-3dabe87315cb CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8193b2cf-b47f-4b07-933e-4e2a54f353ea CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a153ebd0-578c-476f-8c5c-66237414656b CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70c78553-4ead-479b-a6bf-11c8a3162cf2 CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16663ea-a9e7-42e8-9afd-07c508c17b32 CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7aef0847-b2d7-458e-bbda-050774da3988 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543eea48-05f0-4bb2-ac93-2baca8b61fe1 CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 069969b2-4a28-426e-a158-842fa72845f7 CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a8435d-f66b-4a67-ad44-bf2ee35d8055 CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ba9c1ee-801d-42fc-ad45-e0787f1aefa3 CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ef2aff-ddb2-4742-879f-2f17525e6a5e CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8ca95aa-cc90-4b55-b4b2-a8213a319b17 CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309074f8-0279-4257-8fba-f00b4ab4c7c6 CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8f25502-2ec0-4edc-b75f-bbe4de569eee CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539dabd5-2e94-4900-ba31-b5cb0f615c67 CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e68452d0-aa0f-46b2-9a92-45a92ec10de6 CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b033d3c-94d4-4f75-afb6-537ea91bd7b5 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ec83384-1043-445d-94c8-8d033fce6c58 CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f85de97-ef59-4dad-98a3-1634c24b0e18 CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5850470-57b6-49d1-9bde-2fd87bb91de9 CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6077ba0f-02f0-4490-9b9a-1435ec615a8b CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4804fb4-b950-4b41-9f3b-17f0238e3e15 CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec59a78-c6b4-490f-a474-508cc83138a1 CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b0853e1-a16a-414a-ac7c-1265fe95544b CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b687fe9-a9cd-4664-bf67-a91885f78520 CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31ae0d0b-7364-48bc-9881-799ad2d7d270 CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a214f3-bce6-4dba-9424-439241010b1f CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12f01298-9d2c-40d0-b611-4c4ffe6a9952 CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328ad4f7-1ba0-4db7-ac85-7bf0b82d3ace CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d18cb954-b3af-4ee6-bf21-5d4c2129e023 CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256cc13a-f425-4437-b0e1-8307d8cc5f93 CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06901427-f1c5-447a-9bfe-d87ef715a00c CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fec2523-e3cb-4ab4-b2c0-8cf18ed48a17 CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26469e16-1286-4ecd-8235-eae2be883b57 CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98add42-3e8f-4b33-9df5-b669d837de7b CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb497e28-8151-4741-b994-35d2419f8e64 CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c22cfc-e6ee-4f76-a8bf-9191fb17f998 CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51c50dee-f095-4952-b5f9-6acf7367bca8 CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd09d4b-b90b-4f0f-a149-edb54b197987 CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc26b215-3c1f-4396-85b6-19580bb42c36 CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d7369c-9e51-4d95-a9c1-eb6180bee06c CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33ca1ec0-9037-4007-a6b6-dc10f8811074 CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7c046f-4fc3-4ce7-8b95-f1c8ad056bde CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae52b45a-a3a5-4f94-a34a-b8276e2aa16d CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 007bbd33-c8f6-4b88-b50b-c70f15b6af32 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a70c9883-6eff-44ce-8065-0f52906b177d CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c084fdc0-a1d2-4fc4-b705-f72b78f709ec CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75c2d8e4-43c8-4bf3-89cd-b3aabb16428b CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b49641-84fa-4c18-9ae8-36f089e0f4ee CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac84a611-0078-4b98-9983-f758f2f5942e CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6551555c-68ee-4ec2-ba79-95bf4dc411f8 CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 003223a6-2a82-4bc6-8570-1fc43e291a61 CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3776a27-af1b-4132-9460-61b50ee09155 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecb7bd14-c810-4c56-b90e-e521254a6614 CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec69ccc3-60a3-4599-a635-ba3a4750c4e6 CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73857521-6dc3-4525-92ab-e09aa5b6e4e2 CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa7cf693-3f73-42ef-8306-03a9fe0fc56c CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9c8b626-4fbd-471c-9ca5-877f89b25b9a CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196932ea-ba84-4118-bb0c-1a5464fc2b72 CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 892742ff-f8aa-4650-8ba0-8cfe42d1939e CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183a10bb-d048-4715-b075-1c33573c70a8 CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f051b3ae-60fb-4bb1-8154-416ad883add6 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3167750f-cf69-475a-ae3c-06efb481a00c CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 910057b2-7155-49c3-9426-3f16992f2c71 CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7dd0769-d283-47a7-bf2a-964113b26fb7 CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60d46ad3-9b72-4fcb-a03e-ba08cc6a004a CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfec892a-ee80-46aa-b66f-0dd3bfbf816b CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f05badc4-a0f0-4e88-8c12-078c46f372b3 CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eac9c9f-45a4-49d6-b2ba-093940f2f0d2 CLINVAR:437192 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea2afdc0-4ff6-45b0-8aed-362cb6b20346 CLINVAR:437192 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c64a96-6f0d-4a1f-b86b-c3b3b0afcd5a CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20e003ac-32fc-4efb-af63-d227b50074e8 CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34cec3cf-5e1c-4eb1-aa99-fde4cb9a039f CLINVAR:418572 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad06be04-09ae-4e31-b503-affcef7fb085 CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22382037-0ed1-4f68-a3ee-f06680a9269a CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 350a7e40-a174-415d-b16e-83ab61e57825 CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1bb1d2-e0a5-46bd-9a2d-bebd9fc0b024 CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b9473b4-a23b-4789-8eff-a2e86ccdb630 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab17602-70a0-44ba-820d-c4932b0fd13e CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73d36acf-62b8-4663-9a7c-de2627c70830 CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b218e4-7b3d-4c97-903f-46004d965bd8 CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f52580b8-3d5b-40c9-b641-6fb8f731c115 CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62516546-7ed4-4619-a920-4f2ce6145fb5 CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf9800b6-e6f1-474f-a315-8576d459ba29 CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86482c61-0eb1-453c-ba97-53aa39a8bb71 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56e4e6af-db8d-44b9-a2af-cf69dd0d4056 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0609d2-0c03-404f-8344-cad1c41edd4e CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fdba623-45c5-49c4-bd2d-442507fae47d CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26ffea69-7d6c-4db5-a6f9-9a9d7dc0a6dc CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5da8d7a-bc37-4092-a491-9970b17fb79b CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc3db87-b90b-46b7-bbe0-2d033e23eade CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 018242ee-1bcd-4d7d-9b85-13e121df20f7 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74e1f37-6cac-4fab-8d50-f62c1431f763 CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8bc8f54-eb24-457f-8d96-9a998db7d4d4 CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb2ae9e-ff05-4e31-b92a-2ee06e60036b CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aabecc14-9ae8-4b31-ab5c-71effe267653 CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e1ab0f-1207-44eb-9e7f-d46554e136f8 CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ca03297-0848-431f-9577-bbd3de9adbc4 CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521a2307-de9c-4bdd-aeb8-ff6a3042f300 CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f448df28-8546-4774-b878-b1b1eac5abbf CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0166f164-7d03-40c0-bbd9-636524ad04f3 CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ad13eed-85c6-4a7d-b2f0-6dcc8496aa37 CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2df83e7-11d9-402d-bbc6-94bb4a3df35d CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1353f49a-fb72-495a-aea7-fefeb4368405 CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c291b19f-8054-43e6-b2ca-fa9f5dd783d8 CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e0900aa-1936-43bb-9cbc-e35a23be3ae6 CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a255d3-6567-4e6d-8627-471c9fec3e16 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65fa4bb2-3d02-4104-96c5-32911e89345e CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9618155e-941f-4d18-987f-9b85efa20571 CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0833febf-9636-4e7e-bcc1-55c039a3e4f8 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2ba66b7-428e-4579-8162-b52814d23f87 CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e71b253-8cec-4b5e-8b4e-14bb1a9078d8 CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248ef912-a51f-4806-931e-618db9dc0a49 CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90f07dee-40d1-4711-b41b-643f3b2407b4 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1690a3a7-245c-44d1-b388-edb054da1b91 CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a39056b-3342-42af-9f84-d722ebba77e9 CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb19cd1-7194-4ade-a78d-3915a2e64190 CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cdf9bc1-0604-4c7a-be3d-3dfc4a65d685 CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen addcf6b1-ddaa-4b7a-91d0-b873c2444fc3 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ee83fc4-64b2-4cc0-b1ed-2f7032475ae2 CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893359d7-2152-4b52-8125-e6c68f629068 CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 752d6642-4239-4c8e-bfcf-8a920c654e23 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c0cf0c-1f41-4f6c-8da1-7e57bbb941e6 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5c30911-9592-44b6-ad16-1116e29b2430 CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da2c87dd-a7f2-4c77-a844-350a6468fa72 CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42d9a822-0872-4473-8692-604b3ef90c64 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a18ce9-c777-4500-a26b-dcaeeb1a691e CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 998cac02-7834-434a-b1fe-536248afb4af CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ed96c5-78af-4a62-82e6-5a18079e2fe9 CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19bd1f75-b531-47a9-8fac-569d7f1490a3 CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a74adb0-209e-42f3-90ba-bfe46c070c64 CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d66e97ae-7f8b-4961-a365-5e7456fb4df1 CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b785271-8ffa-4f71-80c4-ba288811d356 CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12d129fa-f251-4c32-9813-3d7ed0e59a84 CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f456cd1a-5e19-4651-865b-2020b5e12ce7 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2218941a-07e9-4ff3-97cb-f00e6acc1da0 CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2359cee0-537d-457e-ac7d-1b7c0e5eab95 CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2414cacc-3b73-44e2-bb68-91e22ce5de2d CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb860a8b-135c-4ddd-8d33-6e0286f8142e CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7de61cb0-71b6-42a5-890d-eadc6b7764d2 CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb77bc0b-2640-4658-9d61-92ef6fde9852 CLINVAR:432062 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 588632bd-72d5-48eb-a4ea-b515359ec9d4 CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba8c8d6f-4033-4429-b3ce-2ade35cdaff1 CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d3691ab-64b4-43f8-8aaa-32eb3cc77753 CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eab983f-e030-4202-a2d0-bfdf9cdefa18 CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57fd48d8-d954-4307-b386-e71acad97619 CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550baee5-4be2-4fcf-9047-ecb93e9c4f0f CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bdd5d78-ae63-4a32-b34e-76da690ee8c0 CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26798964-53a1-4b2d-acff-dea9bd7efc7d CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbb6ef5f-f98c-43e4-a9cb-2b43ed32827f CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b668b831-f53b-4d1a-aaff-5ddb278e6757 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 300b68a4-62a5-42be-8dfa-2eb78801f700 CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc997e23-99ea-450d-b392-e7d109cc8264 CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac9ed990-76d9-45e7-9d58-db5ece9abe48 CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb504d7-3146-4ccf-8955-78ca1fb22b89 CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 990becb7-b5bf-419b-8a35-eec73560e49e CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826c1082-4038-4901-90f0-5200d5474681 CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de3cf210-18cc-4848-a407-94a10e99fd49 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2583ad6a-f39a-4861-966c-6b82e7a1368a CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3fbfd42-9968-4336-ad67-abff8689d976 CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8492dd3b-e8f3-4758-95dc-2a7d227c3281 CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f16f5f4c-fa47-4a59-8c6e-11f5244d9599 CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6625c7-1e02-4c27-ac8c-2cb0381a31dd CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d333333-b855-49c8-83cc-28cbbf5bd80a CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6560fe-e6e9-4aab-b48c-b152af2c9bda CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 590306f9-e6f8-48ab-bbce-a2b36875a2f4 CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7abf8a96-c852-4746-abf4-cff058aa7b51 CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71888c96-0431-46e0-84d7-a0b6fc1c9b77 CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68dd3d32-7c6f-4b5f-a6da-6479d15bb489 CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7eda007-c15e-4afe-b0db-7dac9f181fa7 CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30722a6f-92fa-4200-a30e-59d41cd30709 CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b026496-caeb-4aa4-a238-424de25483a1 CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9d3634-efe2-455a-97aa-5cfa781db117 CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2bda29fa-d6d9-486e-baac-4bca4b623dd3 CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64967a8e-60d6-48fa-92a1-7edad0aad283 CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a0b14fd-1ad4-498a-bee9-c59c19897b21 CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca1733c-da70-4384-a074-1b7b95a6f970 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed3255d5-8f2f-4488-a768-86739631b381 CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4453ae7-599d-40a0-95d3-a2dcdc751a92 CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a91170b-d50e-4bf5-867c-a0cfed262680 CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9faea5dc-7f73-4179-b33b-abcfae46adeb CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd198d05-40dd-459c-8e3e-8ef0c791055c CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91835c3-572f-4978-93e1-709de6b19491 CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 082e4857-2b64-4b64-bdcc-3b0660722d78 CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbafe435-af10-4e05-a9db-9c09fdb3cf80 CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b50a16c-b12a-4efc-a2b9-f323be4e3172 CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc59e11d-3979-44e0-83e5-9238cbbe45a7 CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85a8c6a6-5bad-4f48-ae74-8ee8eb0762e1 CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da688ac6-baef-41c7-8fe6-8edeee6ac066 CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 183a4475-6206-4042-bcba-f688fedf73a3 CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf49b76-0a50-457a-a791-c437a4ecdc99 CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baa790c4-ae8b-4c82-9c9a-f710dd6c625d CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35541509-4bab-4a55-bfff-a149b529596d CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e10d6e65-2edd-442a-b2ca-9f9534f6180d CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb9a1f8-212d-4853-a64a-3ab50cb64d9b CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff276292-ba19-4d44-a4a8-bb84f4bf5e34 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa97da62-92c3-4fa0-bd59-53adebbc5e1a CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c53a0a48-4e99-4d6f-acc3-025b15fe4843 CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1dcee38-dc37-4b68-b76d-06cc603cf2e7 CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23d30957-07b2-42d7-a787-d9b23b59bcfc CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5603cbd5-c8a8-472b-a4ec-901eb6e18725 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a90b8856-4b0e-4c35-852b-0a8f65bb38cd CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2525ab-b0a0-4a17-b501-ec4ca81c2b45 CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9923ab94-08d3-47f6-9583-9bc8ae59e874 CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 943fec2b-1606-49d1-88a1-b00a1f7a92a6 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7f56fbf-facd-4b27-82b7-d71dd8ae10b8 CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3520af3f-34c1-4ab9-80ba-144a7b8ef3bc CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8c4b472-93d8-42e1-9b5d-20a65e1d7579 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d331ef55-3cbe-4a41-9781-48c96ca987cc CLINVAR:133040 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4cde7c6-49e0-4e43-9efa-7569e17e710a CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 891a6ca6-f2f2-415b-b29b-8dd5f6dc4c38 CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44848885-2c6d-4c98-b21a-de4c7f6c833f CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db97e41-15fb-4845-adcc-0369b6db3cba CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2bb5b32-07c9-4ab2-adc3-c0a4a6625523 CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c8797b-e832-4c83-ac4c-e63616c7e5a9 CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21ca53b1-44e5-4c7e-8ed9-79295a648751 CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e453d46-c9b5-47c5-a6af-cc4447c9da08 CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 881cbc61-67a2-4f96-a818-d568175c1727 CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df047678-23e0-4f83-9df9-1d71623964e9 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3414f7b7-c199-48f4-8b0a-0e2c78ff9676 CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e1e5df-457b-4766-aa99-b3e47e2f9f89 CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 454c8849-a071-4bc9-8207-e1e8ea784b09 CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d855929-2b24-41ce-90f3-35248bb4a09c CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcd9114a-197f-4ce8-8118-c9f32c191033 CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7366f69-4801-4612-8ab7-115ac4cd2b92 CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dfa3ec4-0323-48a3-9a6c-f96eb8bd1497 CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9687ca3-d658-407a-88e8-8aa937210694 CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17746e71-ece7-47bf-bbb3-c18b860fe6b5 CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b0f703-b21d-45b1-91f0-349960ad319c CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ad76008-5a16-474a-ac88-0cd897d28b73 CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e38013-894a-4aa8-aaae-6c4dfa0633fc CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a027e51-9515-4cda-a7a1-305939c8a589 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0efab12-ccc9-4f2c-b1b1-43fb9d3eec13 CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7301b962-ef7e-437c-a5eb-7848808db9c4 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963df70b-0777-48f4-9baf-383dffe461c3 CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca269abf-a89d-4692-9efa-8dcb46172b58 CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3946a8d-f831-4088-a2bc-33966d89d056 CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36b24d02-c1f4-4bd4-a60f-004f830299d1 CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40453909-7d80-4107-a84d-419f90092855 CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baf081c7-271e-452f-bd68-83f8a236964f CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e22653a-1cda-4afe-80a2-64cc46b425be CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffed81f1-63f6-4245-8855-2d19d373f080 CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c67a56-2a07-4a7e-a59f-d6535a192e57 CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b187e564-8f39-4975-92a0-0b088149d2a2 CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af75732-6bf1-4d93-af2b-7ce38776e920 CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6943a857-a835-4767-b848-449d66faae14 CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f03813b3-3a3e-4218-8a77-b41b7b0855fc CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de52e86c-6ac4-4429-8a30-1bec6ddf9526 CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f387691-a05b-4aac-bb51-8a1b0cf11ee9 CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3aeb5962-ed15-4388-a974-a05895b36bf1 CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ed10c7-5149-45ec-b010-c3dd7d480e7e CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b312f74a-46cf-40a5-856b-460e61c64f38 CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59821b74-104d-4ed5-b19f-5aeed8aecfa4 CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50ae03d6-e5e1-4b8a-a06a-9f916a0fe0d7 CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a2d350-d85b-4566-8b1b-ad9d04a81c2e CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca5026ba-6822-4dfc-b622-a506eb8ee7c6 CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9014c4d-4863-4563-9f29-0ad65f7cff49 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce879075-1403-4bb9-a7ae-473455a9f126 CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a6224be-31f4-48bb-8627-f136df82d3c5 CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b078fc7-7189-4f9b-ba9e-0a793e140209 CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef144d2c-2460-439f-8123-5c344e30675e CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7db5962-c69a-4ada-a06e-def2ff146e3d CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02584b2d-c20a-44dc-af4a-45a11b91e9e0 CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 889bc3a9-893c-47a4-9642-723328fe2441 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2bf12ad-0718-4f67-ab1d-b90b2baf0d0c CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c2a9ae3-5f4d-4b80-8140-2561158130b9 CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51bd4d4-e7b4-4243-9ea4-fcabd7740197 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27a537d8-d917-469f-b151-11206a0aca7d CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765f8768-39d7-4085-a6ac-5e562ac7b55e CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a9ada52-0a08-4de4-a48d-4668667de1b1 CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54316aa6-59b4-4446-9e27-582f8e671998 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4043a15-c3f6-48cf-954e-c28724303042 CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092a2494-ae0c-43d3-afb7-7bc3aa1fb541 CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e13dc2d9-4f29-4993-be9c-7f354e9f3653 CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a0d785-1b8c-4af7-8c68-c31be9b98ec8 CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40dd5299-c34e-4d8b-9c3c-2999d2ede1fa CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45033b08-c844-4ef2-8e0c-63a7248e2c87 CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11f95d46-890f-4e79-8d30-9c0764e0bb3b CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39d2ccb-0971-41e2-9726-7d0ef8fa9d59 CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6930532-46ee-4fec-aa63-e4bd13de65bb CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad019adb-c993-4a3f-a804-a5f3f2361ff7 CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 862b54d3-010f-4262-8aa7-de993879afd9 CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8289cf-1921-4b6c-905c-06ac8b168bf9 CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35b105b2-2aa3-4e9c-a703-79bf47eee164 CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15029d16-ec57-41a9-bbd2-f3b9eba3002a CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68a72384-e57a-4b48-90a5-732c9d6b38e7 CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c241b460-0800-453a-a1b0-b5419affef66 CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f744118-d255-432d-85a0-90bb0a07ad05 CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf65e05f-e154-48d4-86ca-bf4001469b16 CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02f6ee8d-a058-44b1-ab1a-ea983da02546 CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ed2fbd-d533-4552-83df-1a6e73fca3fd CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7047ad01-bf11-40d0-8b3f-462907f534bf CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c3fb67d-5130-4604-a5a9-8f813ed053c1 CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d399fd1a-fd4a-41ea-b113-bde25b444593 CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f4c6a9-4f09-4d3d-b7f1-127d05444b28 CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa02474a-8852-4bbd-94c4-2a36b81b89eb CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13f7904-1283-4dc3-8658-af2913ba2e56 CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f099afe-f8b8-4c85-b45d-f8784346eb0f CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a47e094-0fd7-4e55-a317-23d87ac63033 CLINVAR:14126 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cde2308b-2c8d-40b4-879f-71ded93af197 CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc9b4e67-c5a9-44c2-84ab-93e07f75d63a CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01915535-1431-427b-a8cd-e14794caaaad CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff2ad96-f49c-4ce6-90e2-89dae19c9c12 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4cdfe40-06ff-4ba2-ad87-baccf3621bd3 CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52a648f-2fd2-4dd3-b12f-c4d358b1ac0d CLINVAR:656751 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc7faab8-f0e0-44a0-b32f-0b1854f3d9a3 CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b0ba98-3f72-49c6-8fa4-a98325216427 CLINVAR:186587 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b72ef482-af11-4aa0-8de0-2276b67ef2e5 CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996b1a56-ea83-4a4f-b4ae-c456a5ec08b3 CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9e93387-6e3d-4ec4-ae99-1efda1de7643 CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3a8172-c7e1-43ec-8460-cbe4755e3f6e CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56e48808-319e-42d6-ab16-d88606de246e CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e5cc11-f608-4764-b8b7-31c427f80508 CLINVAR:1172924 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1009aa07-f97e-4be4-af62-7564afac8dd4 CLINVAR:1172924 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72644b6-d3a4-4104-abcc-15e433bab005 CA397832787 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56cc3068-ad54-4271-a457-29d663296854 CA397832787 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba8b8b63-91f7-40a9-a3a0-fee6e2fd0b2c CLINVAR:142158 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f7ef16d-13bd-48f1-851c-c9f5eb7ee0e0 CLINVAR:142158 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b04103-8e62-40a2-a096-085e14f49371 CLINVAR:182933 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46f9816f-e406-4660-871b-26da843f8155 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf441b2-748d-464c-9135-4a02edd12fc4 CLINVAR:182938 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7aa86828-a1a1-4d37-acbc-1f56f78e4bc3 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0374963b-9596-4324-9a26-b5e68756c978 CLINVAR:182953 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5cc9717-c4d4-4180-9bc9-42d21eded5d0 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17494986-59ee-47c5-a233-e255f18d527d CLINVAR:187457 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc23c8ac-a218-46e8-af5f-d98336f700dd CLINVAR:187457 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b795964f-cb6e-4900-b0c1-eb24ec9e665d CLINVAR:188342 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 834be31e-921d-467b-857e-38f61ca1f29c CLINVAR:188342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52d9c10-2678-4ba5-9ac8-e758d83dc7be CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b3a81e3-e0c4-4965-a52b-93167a22d4e5 CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d3812b-b5a7-4eec-9d56-af211a82d1bf CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfef5454-46cd-4009-aeb5-d8049fe02e06 CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432ae3f2-a787-4c78-8b5e-87ecad7c81b3 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 170bf0f6-c067-49cb-9c03-c02514fd1994 CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e93883ab-be2a-4ac9-872e-d6e4b445c0cc CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95536101-8bf5-4974-ba7b-774866930dea CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48861885-cb7f-4564-8b46-41075d7a43d0 CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee1c0c12-5ded-4fd4-91a2-733e9332a640 CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4742cfd7-d264-4659-aa20-b73cdfa4fd00 CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99989abd-0b88-4762-a43e-3083355b51fd CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646dd588-ed7f-43d1-b2ea-bd364e713746 CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 562151ee-5753-4d15-b8fa-a55d3d3d67aa CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee4d813-950d-40c0-975f-e55619320207 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ef2f18d-22cd-44a8-887e-dc7420511afb CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2ef5bf-046b-4f36-bc1a-422d3d34e357 CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6a8f282-2b16-4616-a867-941a0e2afe87 CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee7caf7-0607-452b-ae8f-0fd40be83867 CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00260294-f802-4512-a9af-2955a816d1b7 CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350fcad1-bc24-43f2-aeb4-96d7ffe0914e CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a109b632-c238-42c5-abb6-d69138b2b0dc CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835a26d4-1cab-4789-88e1-26d0322823d2 CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6bed2c5-60da-465d-afc1-de8f811c1144 CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c995b9-40a7-480f-9a54-34df2a70ec5d CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b8dc9d5-5e4a-4f52-a6c5-3771b3a4c5d6 CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb8770a-2043-4ad7-bc51-16b1d970c45e CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3cfa3ea2-fce4-4291-9655-df91d0a35c7b CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1265c633-975a-49af-b937-7c5fa56f0171 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d30cec10-ac84-4e42-a4cf-071b6cc2f162 CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116fbfaf-520f-4582-afe7-07d334d2c495 CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51172d03-7fa9-4291-a75c-c6a1e88dfa89 CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61c798a-1f50-41bd-8564-a65f7b4e3e1e CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1943877c-d08b-4028-9e49-83f317364065 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650b578f-4b70-4828-852e-a0e11dad0c77 CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22c43fa9-2f81-4505-ac4f-9904b25a1af1 CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df151d49-44fb-4ad4-b8be-1a015009f82b CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00ea6d91-ba88-4820-8b96-378598b7ae17 CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9565cfe-606f-48af-9b4a-bf1b34d4660b CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b45681f9-fb46-4eff-8559-66160afcda00 CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26cd5626-5fc3-4634-bd8c-cd14ed55372f CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4937ce0e-3060-4f3a-84de-da620e5c642c CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ab1789-d7bf-4aca-a273-d2bc6ab10e3c CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9a0f7dc-26df-409c-b9cc-5046866ebef4 CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dc292a3-83b5-45d1-bae6-048090fc3719 CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 660e9ef4-d988-4b8e-99fd-4b51e5ec467b CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae552a77-58a8-42f9-bd99-ce4c227fc39c CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72b08c3c-db57-4f20-b346-330c799f2e39 CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f63cae-2d9d-49c5-a3e1-607c02850f7a CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32cd7600-a40c-43db-a403-12f487697c93 CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c623ed41-8561-4c60-9a8a-65b1f7ecb629 CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ed907b9-8735-444b-ba2a-ea5ef8496430 CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a0d597-106c-4d67-a24d-5d5910dee7e3 CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06c5c9b1-ad57-4457-ab1c-5b8da1f8cb01 CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7373ef-7a8c-4df3-9bb0-f622469ed025 CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3c56f90-ba7d-451d-8071-06a697993013 CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df93fb97-4f35-4955-97a0-52bc9176f530 CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e99e3f79-e1f7-4cec-90fe-b9ab1582e112 CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081e7d3d-2bed-453c-839c-62f627abf90a CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7497d99-eafa-4807-b736-a1377a7f0a63 CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476f3a4e-3aba-4088-8682-e9a24d53da77 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8c6ff87-171c-40e9-89e7-1491d40a92cc CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0929d297-1237-42e2-9ec7-f9034aa4dc7f CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1de4093f-d356-4f77-901c-1e3b487aad32 CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f3b852-3ac6-4927-bc9d-9b9053a11262 CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69feee00-1b53-46c0-a391-a558293c5e3f CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65adb53c-d6c3-4c50-84b3-31bd262bd4cf CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb7a7b05-66f5-4b4a-8b2c-b691ae82e2e4 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdfca514-bc8a-4c2b-9d59-7b2c2a8e0813 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7508c55-bf8f-4fb0-a8c8-1fc005c3740d CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a0c416-1f08-4a34-9f0b-10a5ea169469 CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36a27bc4-6c48-44ba-a54b-7ab8d88a8a6a CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67141749-5f8a-48e8-a453-544beeb323fc CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fc15317-abbd-4708-a133-aab09952a46b CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c01965d-485d-4f22-be1d-729af0950924 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 659c9efa-9256-4da6-bff0-546fdc7b4f9e CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e968146a-9a0f-41e7-90a8-9092da8b9468 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67c4b648-4d91-4293-9ff2-4a4a745ffc7b CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f351a16b-bf8c-48d2-b5eb-6f1c8c6b5d16 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d5b04a7-2e9a-4c62-9009-31e9aef6adaa CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33aaa99b-d6fe-40c3-a332-7fb2646e6ae2 CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44f5baf0-f147-4899-aa1c-d921d6b88b02 CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a779c4-6ca4-475e-821a-0f710e0583ae CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dc073e8-87a8-48f3-a14b-3af470dfd2c9 CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd3ab5a0-c2b1-4bf2-aeb6-ef8328d6c905 CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d767c92-30bb-4402-82b7-449fafdb1d3a CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca59877-9721-476a-9776-249056f0cbcd CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5c908fb-e596-4b4a-9cb5-a834ecb3aa3b CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc08eb8-cd53-4c70-9380-2bba9e7f11e3 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20ffc592-53ba-49c0-a647-a50d3a9e1381 CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f44745-a47d-4854-92eb-9cc641c9debd CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a86eda62-5030-4620-94e4-49826fef3945 CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426507f7-e3f2-4b6f-87a1-2820b0ca8037 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13935634-c7a6-46da-a381-c45c4c3d93a5 CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b3bd56-aae1-4be8-82ac-8cad04af64d8 CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04d16236-1c90-4276-b6f4-6a305da965d8 CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7535ee6c-7d3b-4a93-af44-db65717aedbd CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82396050-c501-4165-a62b-b955628e2ef0 CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d990cf93-f0ca-488e-8583-6a969e8ba04c CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffe63eb2-2dea-4c5f-99df-7546027baac6 CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06788f77-4adc-4698-848e-261cd9ebc18e CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 467762bc-3c5d-43c2-8456-4d79989a5ea8 CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086ce509-7d61-4e4f-b294-0e13bcfef8c9 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b3a7a6d-1fb9-461b-a230-c2aec0d84afe CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace9c030-d6d3-4b38-b183-e767cb9e6867 CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1d7635a-cc5d-429d-b69b-513d974c6776 CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3897fe2-cba4-4626-9401-5c0dd9469ce1 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3c4795d-a76c-4b9f-a8fe-4ad70f128a64 CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36327dcd-93cd-4f44-bc71-0b06bcf44796 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22e58eac-089d-40ef-be1b-b31ad8a4987a CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2419d03a-0049-4ddd-ba73-3b1a8495c250 CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bde16dff-1b6f-4963-ac6c-e60453c5658e CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a6d312-80e2-4c3e-aec8-aa17b51a0db6 CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8b676dd-124d-4a7d-b50b-b47fb48cd77a CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc3ace2-86a5-4d1d-b38f-440dc5f990c5 CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca54d42a-3a8c-4634-9913-23334971fd2f CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52140d59-792d-48c7-9e00-6c4092984620 CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72e36ff8-42db-492a-aa81-c597cef5750b CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 474d0038-1fe2-496b-b5da-323d656070b1 CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73d33823-1f4a-4e88-93c5-ff267289119f CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6881e71b-c781-4912-b30f-4794c6040ca3 CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13e3c12b-173b-4fe4-b055-c468138b5e01 CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7475818-d70a-44b0-b3b3-7ac3389a47bc CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5508986-0821-4db5-99b1-847cbd409277 CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b48e1a8-98c2-4c92-a6d1-d0cc18ec5919 CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2e4ff3c-e862-4bab-a5d5-0f916996104d CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79474cf1-ecd7-4ed2-897d-1180988db875 CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb500e02-1ec3-479c-ad31-4eead2342f31 CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2198ffc8-ff4b-4dd4-bfc6-66a598c1b22b CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e02f362-e353-4a4e-8868-ee5c7c38d613 CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36a124c-15cc-4c81-ba6d-80d6951194f8 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen caa54d82-833d-4b02-8d04-58808be539a6 CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1365f9-d18f-451a-b510-dddf0477c3b0 CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b933910c-24f3-462e-bf64-35174e9d4e05 CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 351f5d0c-882c-488b-b66e-9c05670bfc0d CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 798d8c48-3db3-40d4-86b5-90d965a79278 CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68574135-6567-42c4-8127-7a84c30922e1 CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3946256-2a8b-4481-8fcf-8728d0fd3041 CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd17e12-42f9-404c-b2ae-b335d950f3a6 CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfa362d3-ba5d-4a1a-b1cb-662be6000d5c CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e027f44-0be1-4b77-9dca-476f308a30f0 CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d268c4e1-8bc7-427f-9bbc-0c028830eb73 CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d447a4-32be-4033-a8ab-7dedb9bf5360 CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d92500c9-9a51-4964-a425-e2ccdd40d239 CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e552cafb-19cb-41e7-bd4f-ed6dd34f2dff CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e76a2ce-f173-4490-93e3-e783a07a2bc3 CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0443718-0226-4c12-871c-ff2af3c0427b CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46abcaef-2187-4be2-91de-bb069a8bd527 CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10db6c48-98d4-48cd-81de-75ffc401b333 CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 933977e9-beaf-45c8-a052-4ba838445bbc CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc5217d-2c66-47db-9066-9f8891243f87 CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 426b9e21-aad1-4971-bee0-a3e1b182c83c CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca020484-2331-40df-afee-d54eb5492c6a CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fff6c38-6dcf-4b73-9aef-c0929e4ff03c CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75fea9a-59ff-499e-bc98-496d64ecf948 CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4939f7a1-d91b-438e-b643-fdb6108d6c4d CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbe98cc-f76c-441f-b7ca-e6a4ef9690f4 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86a1f4a1-533f-4f1d-973d-885ff0c612c9 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f6ead03-7500-4543-910d-fb7471fb27b3 CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea85ebb0-5493-467e-8bfb-62d358ba4847 CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24088574-c0f6-437f-bbc2-83cc186d9823 CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2593c94-372f-431f-bf49-76a0e42afdec CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec743c2-7c29-4171-8f7c-058b06e580e3 CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f893feb3-bb4c-4fbd-8b91-0d81088ba36c CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545cdf42-962d-4dab-82ce-06a74654701b CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8ab28df-3efc-4caf-9376-f726756c264c CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b105c2-7b86-4a86-82c3-80147da9de21 CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6353d5a0-d1e0-4784-ab2e-5ea0a23b759d CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d19a62c-0ac7-4d26-99b1-a423c7e0fa27 CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99f94da9-e5ca-4222-8734-0bbf5b4df370 CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7371ca4-d046-4642-9857-7a528599a369 CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38b8979c-0828-4ac9-a27c-e248cd988606 CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad567781-2964-4cfe-8746-c598a7ce123b CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7389202b-0914-4abb-97fc-ae049a22e552 CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec290581-fc2f-4ee1-acf8-bb75f0c88971 CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fb8cc5a-3595-4fb9-831a-b434fe780ec9 CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0905588f-b60d-4ea4-81dc-5532dd30d02a CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25222635-8a06-4ee6-8f41-8cc2e15d12d6 CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e94cbf-55dc-4223-83c1-61855a17d2b2 CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 158898d5-36d3-416e-ae01-c1152f8631dd CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6caa9952-94a9-4f4d-81fc-8995bfa4b741 CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91c989a8-0089-4ec6-937c-65398ce56b19 CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f4c047-feb3-4c6e-98e8-b5e6b0990e38 CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 924669a3-9a2e-48b0-8d91-a3992f746a6b CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f526c5c-6c9a-42bf-8b25-17761486f9d8 CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ed7119b-3640-4da3-a6dd-2ed1576a1f01 CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efaa408a-9ce4-4351-a00b-e2ea741940a7 CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43ab41f6-fecd-4967-9096-5c4e1f8ab40d CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62079186-9515-44e6-9050-1134527c5d5e CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a50ae6d7-3c6a-4fb2-8dec-ff29710c5dc2 CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7bc6f72-4edf-48fc-81bc-6caea68e28bc CLINVAR:2902 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a2edcad-f065-4862-b13d-0fd1b172a5b4 CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794b050e-6929-41e2-a89b-ce52abe9c411 CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54288786-c3c1-4a44-aafd-d528cbc19eb9 CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fab5b9d-bf7e-467c-a507-3f0667544fb5 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edd840de-14e5-4d6c-bd0f-ca7c965b1962 CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79954d38-1c0a-4646-bbac-e31dd6cd3200 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20864191-0926-4e49-aac5-79e7f52a3059 CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e25e39-ff7c-4655-bcd1-2ea238cb6a43 CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53ba50b1-fa2b-4a8b-9740-0d4d92c1dbe9 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd78f5f-e326-4439-a03a-b3dc5f25af24 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 571734b0-2db3-4096-9bdf-dadffa106b6e CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75dbd2d-ca5d-4f44-af11-c9ae83e932ef CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84728ddd-12ea-43d5-90dc-a8091aa7a2e0 CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbbdede-9d80-4036-b6b7-37ca900b81bc CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f27ba6df-e31a-4a9f-a603-f84bdde2c1d4 CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac902e9-8066-47f6-be2b-3a21ab29bf36 CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b35a7b7-a412-41c3-89be-fcb10ce5c20e CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2245ee-4e68-4e02-b781-311b8b28b2f7 CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25f5464a-da71-4d1a-a441-61057385c8b1 CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c328243-4bd3-4416-adc2-65cb97ddd6e1 CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ce73e51-dfb6-4ea1-ba28-83f7ccbcb976 CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a43132-cefe-4ee4-bc6d-a77653662b0d CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f1e4962-cd96-4450-a93e-0348a6484109 CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe9f1a8-c5b1-41ad-8677-2e764e8f6ffe CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5ec9183-6b72-4878-be8f-00df540f0c43 CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc42c66-7c29-44c3-830a-97833d5202aa CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e005197-a3bf-4a68-ba71-ee5e334a35e3 CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1092de4c-a1ef-4fd0-99e9-bf20cd9534ad CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d054140c-46b7-45a3-8131-471a8c37d288 CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4566cb-5496-46b9-afeb-767e4a2dac2d CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dae2f2d1-b91f-44cc-8cf3-d0083b650e2c CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b268fb-8ffe-4bc2-ab16-0b2364c69134 CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3715b5e-1b4b-4c5f-8c09-f2e1973303fa CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18926489-a198-4c51-b80f-32cb7f471a96 CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2948147-7d6e-4ba7-953f-b4a7cdda4459 CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e19bc3e-feee-4b14-9adf-4972a292f771 CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aea04401-3f23-4f7f-97bf-f89c7e320160 CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48baac54-7e66-46cb-a465-5b970f1e86f7 CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97c2f9d1-1b05-4da6-9ff7-7355c6a4af2a CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9537115-2fe8-40f2-b29b-dcea7856dcf6 CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20b786a1-341c-431e-816c-f48ba04bfbb3 CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8e874d-bd0f-4773-bff9-f6487dd1f00a CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d3c3ba5-b016-42bf-afae-09b1d7a67049 CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ed09e8-05e6-46d2-a7be-a405ed6da80b CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6e56836-97ba-4ca5-b6c4-0bfb7deac0f9 CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8725d7-3936-4ee1-baf8-ba87a222d288 CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5ba19fc-e5b0-47fe-b677-4c646144511d CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2dd81d-d731-4fa3-b763-ca608c7f8f05 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5e2b607-b153-4cc3-a56a-a969dbf460fb CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce6803c-32f4-4dd5-8435-d39a80e04267 CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba6d0d52-508c-4bb8-bb34-1c87a39c285d CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00e6b8c-eb07-41b2-945a-ec87dc733450 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2881b78-3894-4120-9cb1-7a13ebb40b22 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d6c08b8-3982-4bb0-8c9b-e56addfe62b3 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9406682a-175c-4751-b692-cb9f5eb08d52 CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a7f96a-64aa-42a7-9465-ab5f29571bf3 CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d451933d-f3c3-4829-b924-42f95ef5291e CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 450ff84a-a123-4e87-91c3-1ad7465f687e CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2c9f602-2bc3-45c6-85d6-ab6f9d4f4276 CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388f1a7f-1724-4cdf-ad22-655ac2f0f775 CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a12e84e-16ee-41fd-892c-1d703a758c3e CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68fe604-a09d-48f6-a31d-a59e66b42507 CLINVAR:953046 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e479d7e-9ec7-4b42-bd71-9e44548d900f CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329bc120-4fbc-40d9-96b5-c9b18aed6b69 CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e29e94c8-046d-43c8-9fb2-f723164cf0d4 CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be21b65-09b0-4af5-88f1-4930764ab273 CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0502e496-4a5b-48d9-97f9-cfe9b96cdd24 CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a10e977-3006-447e-8fb8-35a2d2225756 CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe6ae4f3-bd59-45c4-915e-815447b91c1a CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3f0a21-6d3b-49b2-8137-85cb9b7c6d7e CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61ff90c7-7549-452f-a14a-9e13dcc7fb03 CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d52a94f-f343-4efe-9de6-dc84736ad761 CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f806d99d-d2eb-457d-b0de-1ac184e4797a CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96fec42d-e34c-46d6-a6ae-932e5aef24b0 CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69c8db9e-4bd2-49fc-8e5e-0596a640a577 CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f4a334-a26e-4ef5-8869-8b0a6b62a72a CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 329ad8fa-fc90-46b9-8312-5e4b0068056a CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80260f17-e215-4b5b-aa26-214214392af1 CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6921fc07-6ae0-4055-85e0-16ba9889a752 CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d136e9e-54d8-4001-82bb-280e18a01985 CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 680a1ada-1daf-4785-a9ed-97a7f79c576e CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c1e0b9-b22b-4bf5-acbf-e3328173cbc7 CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 945c6e19-d5eb-407f-8d9a-3eae5910c247 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee273004-c4ab-4072-b935-84cd68e1c9be CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec080109-4904-4be2-b214-77b4ffc4f0fc CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b54c11b-970e-4c46-8ec3-120351b6830c CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e9c9297-6827-4c4e-afc7-f6241050777e CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258bf916-2db1-48c4-a6d9-cf3a863dabe5 CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 887fdff2-ebcb-4c2d-91c3-41bf18561385 CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e89ed5e-eb71-4868-885d-95c405a09cb1 CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6bb08e26-a9b1-4a17-a8b2-f9e7658241f9 CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b803d8-01a4-48fc-8c6d-949fb689dd47 CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f5d1cb1-2be0-472b-9513-1c5248516aca CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c69ac88-4f76-425e-bf94-e20e1136450f CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d8afdcf-b22b-4e37-b1ed-2b427cab74f5 CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2491c166-af17-48bf-ab41-03909b3292ac CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4f18a61-c128-4132-b955-1a49f396be96 CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c52df3c-c408-4412-b773-9b8bea382341 CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40baacb6-62c7-4c20-a07d-1f86c2081d5e CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbcfbb0e-6919-47a4-8298-a98ed8908591 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb8ad7f6-956a-4d31-9786-a0edd7df91e7 CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94081007-d92f-4e02-a1bc-1aed6d08267d CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35a49f13-0c52-4383-bfd0-caefe73b3f6e CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c8fc65-ef93-4215-aa50-a87bbe221376 CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 256e40f9-32f0-4cd1-b742-7feb5bfa7f1c CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73539db-ab8e-47a6-8e98-883e339aeb2f CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a78eff7-4232-4359-89bd-5c1dbb6fabce CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a8501d-e814-4a4d-ae53-c7d35cd9b57d CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42eb7b2f-ec6c-4d0e-8882-765f3d88c3fa CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a11356-e5ff-442f-9735-332c4dbfc18d CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d34b64f2-bc81-43bf-8028-8d300b72f3f1 CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1accba41-4324-402f-b7cc-22a067b6ef5d CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21778ca7-dbb8-4072-b815-e497f5c129dc CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2145b4-ba28-4574-8632-83f7d0a32479 CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bf4531d-a1aa-4734-8b0d-6f2fb63f72e9 CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c784db44-de8d-494f-99c4-351c6071d21a CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80787084-9b6c-4d5f-a879-7013cacb4430 CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e13ca5f-abe2-42e8-94db-c74aae44f7cf CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16e9e4c0-bf4b-4f84-b4de-e1180eec58eb CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed637d6c-7802-42e7-bf93-1d8f092608b0 CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ffc53f0-8392-4d2b-b96c-4f0ca1f236e5 CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9969d7d-2939-4b91-8827-3fc5b167c467 CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3537449c-0855-4397-92f7-676c0c1721df CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87a5fca-e992-48a6-bdfe-ff6a196b07ed CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e938b2a4-49ee-48bc-b221-09cdbb5a598e CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7c3257-fe1b-47a6-ba7e-6a4de0cb1ca0 CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f0d5ae6-1bae-493f-9b4e-670a02a8e43d CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb413ed7-bb75-4795-afb4-4006bd044538 CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3701544d-db8c-4b32-864e-9c3f77cb7617 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfa566a-9e37-4dcc-9444-59f1ef352a6a CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f930797e-b4f8-4dc4-8171-8e5e796a4d6b CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e423ecd1-a4c3-4ee5-9324-0b8cc8487a3a CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 201e5c49-52b5-42a1-bf48-b4714931d7fb CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a46770cd-578c-4ce4-bbe1-3331e3524dfb CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec9a53a7-d511-498f-878d-ca94c4668fe6 CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 941d7d5b-3fd9-43c8-a592-31066f08052f CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32dc7e2c-724d-402d-9deb-37e209f1380c CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a5db9c-d853-427a-b0dc-32075858c5a4 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc98c085-6ed1-41d4-9edb-266b3efdc50e CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494ffe2c-b8e6-4ae7-acfa-5bfff7ff7eb8 CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14ce8411-80f2-4f8c-a152-2b35654fa001 CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a8a8ff-11d9-44e9-9371-094304f395a1 CLINVAR:590575 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fca23c4-7585-4a10-82c9-bbec11e69ee8 CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4749d3c5-6a1d-4d62-b09b-bc4809d2e601 CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 963e0b85-f172-4596-9998-fa4b21bb4e08 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f721c752-a918-4164-8810-2df6db5b442b CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d00ffe0f-0e22-4fbd-80a8-6e557bc340fe CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34832756-542b-42cc-a00e-49a93e35dfa2 CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62489637-8081-4df5-94fe-cf00aba663a4 CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7d421b-fe0c-4879-bf82-58a0aa3f565e CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b7ac2ef-bad3-4d46-a582-fd6710f68f67 CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c220a62b-f575-4402-ab91-5ac2f7c4d5a8 CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acccbfb9-40dc-4483-ba59-5e8556c14bc8 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9044ad6e-ebed-4b0b-ae45-3fa71be15979 CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb4e9111-8614-42a3-8a25-ee81d1622fcb CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd931d7-d102-4bd0-aba8-29650dfae6c1 CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0439a542-ccff-4eec-99f5-f7fd9faae5d2 CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ff744e-c1fe-44db-bf92-57777bec4708 CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bcd7e7c-96e6-466b-b3cc-91b454a79333 CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fd9f52-ce51-4ede-aca9-b3ce08a36db8 CLINVAR:590580 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7f1e800-af1a-406a-a88c-9982f662e569 CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d7d739-8c1a-4ce0-a438-e54d9853ff5c CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7815372-1c8c-40b4-bebc-ff547f6fac47 CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9447d33-f47c-465b-9435-db5236c6ce74 CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8dc91569-c8ed-44c4-85e9-cee4976e2c43 CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ecdd95-e21d-48dd-925e-4bdb6e53774e CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd308be7-de41-40da-b4d2-78c3986a61c0 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 032540a0-6ef6-4e71-86fd-c1ebfe0831f1 CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c7589dd-8092-4553-b9ac-af964d3beb4a CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76f6759-4ca3-42e5-9afc-18027a52f113 CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66752906-9802-4d9e-82a5-39a1e9607bdd CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1ffcce-d909-4c51-9a6b-de91ce948fd2 CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81c45cca-59ce-406d-84c3-36e6f3b1ecdf CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de7e371-ce8c-44d9-be79-f275a41ec7cc CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd784e9b-f025-45bc-8e47-91cb2d59f6ae CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625c5932-4bef-4ec3-ba8e-44b9493d2116 CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af1971b4-e1b2-4697-b679-75050ccff215 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9adbb8b-1539-4a12-81b4-ae884a1e05d1 CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 569d742b-9f2f-48d8-8c46-586f9deb58fb CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f932de-53df-4f38-9a92-e81a28c8d968 CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acfa35d7-9e9f-4b8d-b106-f197abe1a904 CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5459befd-7c23-4168-9532-0654957ce0de CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9eaf181b-2d48-4a70-9dd4-2d7c41277252 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f8115d-7692-4096-95d8-3d3701807be0 CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 683b2288-573b-427c-83f8-95b168dc8a31 CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861d129e-c93a-433b-83e4-b7a6c2e99108 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e6dee7f-2dea-4ce5-9c79-a9926b498005 CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8c626e-975e-4812-ade1-a1a221823eb4 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b613935c-0c5f-4746-84ef-54368a3062c5 CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0dfe8b-a1a6-4c6e-b877-52b104448f5d CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae9ceba6-c8dd-4674-9d20-6a9265f0eee4 CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3daf18d9-48d3-4118-ab89-3fb4b3bac1d0 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbaaa455-b68b-4f9a-9ffa-54432feb40d4 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2308a162-f0c6-43fb-8be4-1705d66e1395 CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fd63773-bfd0-48e7-a85b-9fb8516538ca CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88285eb0-f6d9-44fa-ab0c-e30945275a5c CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2b5285a-e9bb-495e-b123-4d177d69a36a CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd2b464-43a9-4d3f-a611-8e787ac4b464 CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 891b5ea4-0d2b-4711-b6b8-75ac10c8919f CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e39172e-b993-4cea-afc6-d908d6fc93e2 CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a561a15-1fa5-487f-8705-511efce8d53a CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e0500d-ffb7-4064-b324-809197dfd1e3 CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83c24ed4-4439-4b87-afb0-5bf51293fc95 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb1a71d-6f1b-4d24-a858-99a007599645 CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0718b48b-0f8c-4b7e-a813-12a7f00b3bcb CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d591441a-b468-49b8-9f7e-74a299517190 CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5144f2d-d95b-4ef6-8b88-c7762f3afcab CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c501ffd-8043-4ca2-bdbc-2b8c823846c4 CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bab8e9c4-95f6-43c6-b73c-de0148705d0b CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb47407-25f4-4ae7-b650-f3995e53cf64 CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00112952-d144-426c-80a8-dabe965146d4 CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 347802bf-acb5-4b08-8111-9185ef680d1d CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b86ba92b-6856-47f9-8b1e-e5b27cf6d0f4 CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c9bab4-7e28-4116-a3fe-61cc7ddf790c CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8104350d-b204-4a64-be3f-114fab010cca CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953ef267-87cd-4658-884f-c59ae004b17a CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90db3f6a-04a8-4c88-b535-a0b31e8c06e4 CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b448823-2ef6-41d6-b008-b7c6b4c25e5e CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f374ff8-9549-4fec-a532-fa8972bc4bf8 CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a99eb95-af22-4fea-aa08-27f0ddcd8b54 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 028555b1-921b-4f8f-8174-15c05afafc08 CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f2c14a-22d7-432e-b188-2d14a19add26 CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d8f047d-2eaf-4955-b99e-29fb2b0b6ba8 CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5778ff2d-ee6f-471f-ab70-3c1ef29d83ef CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9de168e2-4299-4e88-9b5a-9186b3c6c224 CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0fbfb9-0533-416a-afb5-2c92780c52c3 CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 883aa332-7e71-440d-8836-d416afbe639c CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f923ea-17e0-41f5-b096-23f454bb19df CLINVAR:1210302 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 946d74bd-62fb-4012-86fd-e335120fb908 CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e166feef-1a7c-4e9d-a113-36718f8dff7e CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62d18f45-5ebb-4074-942c-94e4fd0221a2 CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab3395fe-7f0c-4591-b816-8eb56f56b744 CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0796cdae-84b8-4c6d-8ae9-e27da6bd3ee7 CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7ff9ef-43aa-4bc7-9b8e-ad9bcdfd52b1 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e435f9a-453b-426b-b40a-16ef7cccf9ff CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87521a1f-2e94-4ffc-89b3-dda62b704dc4 CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08080e2f-7757-49cc-960a-b30040667748 CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a64e280-601b-456a-90a0-6e1e11f47395 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d951f7f1-ab7b-4bd0-ae0b-473399810b14 CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5e1c62-5fb5-47f0-ad56-4b060e5a596b CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e7c08a5-ed0b-4949-9fb5-cdbe8bd755b3 CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade0a203-fce9-4c88-aa5b-6b7ad7af48f7 CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38808802-8ff5-41d9-9fd1-1815adf89537 CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262844df-4e2c-4091-875e-1a004d8a2b0c CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8de3359-7f44-4868-bdc1-129d696fbbe3 CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd71292-9a0b-48de-92c5-74db213844bf CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cdef53d-2d34-47cd-a697-46a39ea978b3 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7db979-237e-4408-bef5-12e0532181af CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 226f271b-4dd2-4b2e-a6f1-5c2f55e8dd05 CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8feb287a-cb54-474d-bb3f-4c14bcd01e0b CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e53cb86-da3c-416f-9d5d-fef3ba5805d1 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb483f9a-036b-4c67-b295-e57b4999d146 CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8813787-b170-4817-bf40-c4e869c743c4 CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b959055-586b-4a49-a3be-da0d2f1897da CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5487014-e09c-4b35-a864-c978d5cfa9d0 CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05028601-2946-47e9-a015-33854e5964ee CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9577a08-14cf-45e9-9c68-12116bfe88fb CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe276352-bf34-46c7-94bf-9d9fde0d0846 CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 821f7642-5782-4eb5-9010-94c73b98ec83 CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c856ba1b-a806-47a1-b310-bdcc62d76492 CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23eb28cf-9265-4652-8766-d7bc4688e130 CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d080685d-48c7-40f0-8164-700ac5565ed6 CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd9c1acc-e5e5-4b57-b712-094dc0ae9503 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b46818-6d5c-497f-8787-2b2c5c9c7292 CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a27a38e-6a3c-406f-b869-e17304ffc08f CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab06c19-962e-414b-9682-8d1d7682f2c6 CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aceeebbc-4b98-4d50-987e-6705219f8973 CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7edf41f-bf8a-4b7f-b623-e1a466273739 CLINVAR:133163 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76b864ef-3772-4127-ae77-ab1a2e4249aa CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89e382b-ab86-4f31-babd-1112402a5b45 CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb6ce4dd-bed2-4aa1-96d6-70676c184c3e CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51724eb2-e113-494b-b9aa-f145d71ac6fe CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdb8041d-68d8-41c7-8eaf-8cba33cf8411 CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7654b7ea-d14a-4792-a02d-37a5f70fd456 CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90113a64-c9ca-4edf-a11e-c71308ba9686 CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facdec60-97bf-466c-9bcd-f0e0c704d671 CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4a45f57-5b36-4d35-b0e9-23b5c7e0a089 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f9f8e51-d407-4a9d-8e52-4f9ff45d7019 CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6a2de9b-2081-4cc6-855c-062d04a0df6d CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2061c8ac-23ec-40c6-ab4e-96a5c909ae1c CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79a58f5a-e536-49cd-a106-72c1911cc278 CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d9ad73-3ef5-4f48-9ac2-9d045197ca34 CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc1c0844-9663-4b2f-b353-23a0bd6f62d0 CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04151658-4204-4960-a7cd-4a1ce2c208d8 CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e880c54-d82e-4725-b6c3-a9f7f1b9df92 CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06f3960-a237-4cae-be0f-bab4438b5fdd CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e14d2702-3baf-44ef-a68a-fc7c25d407fd CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f39549-dec9-44bd-80b0-f928ca0e3713 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa8d4424-210f-487a-a6f0-74c8b00224a5 CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5508827d-436d-46f3-b83b-30221ae046a9 CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d76fd9f-0185-4c21-936d-93cba7025b2b CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b348f689-05f2-4ab9-a957-66ac829fb4f1 CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af23a944-01a8-400c-9853-3bc802e7888c CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946a37da-08a5-480b-93d0-16a5e39f5daa CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25a912be-7b06-431d-9234-8560224937b9 CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b214697-b8cd-43e5-8294-8db52bd915ec CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59563145-f418-4d63-910e-2899acc4e55d CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f0cfe7-16d8-4251-bcdb-25ce8dc51f36 CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bebac30-d8e1-4d98-a45c-37d5a1159fcc CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98e888e-f056-42f1-b49c-ebea637d58e9 CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e794ce79-899c-4d8b-88d2-8f867dd39885 CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55096147-17c4-4e3c-a485-a99c37515c0e CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f771149-e1a4-49a4-97b6-4974fa28d42c CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27df88ed-9683-4084-92b9-ed571ffb1736 CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43624739-216f-4e7d-91fa-3b8fa74ce55c CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485556f3-2b21-4ae5-8caf-eb3093b9ad91 CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbcfca49-33b3-43ff-a87d-22ae89fd5dd5 CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ccf66d-710c-40b1-84c2-d0f6e19be42f CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f685ce1a-f7a6-42b8-9008-a71c2cbfa36c CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9027b7ae-7263-46f5-bd26-d26b177e6dba CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f476e83a-f743-48e6-9b24-d0ffc3b965cd CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e086eb88-fd86-4695-ae2e-e796df7eb708 CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 452d95bf-889f-445f-9f71-91ac9304d28f CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba71b96-8957-4ba4-a2a6-2cbd79213867 CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb27117f-e098-42a8-a98a-3bb2daaf82ac CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5993c376-fc85-4001-b209-97169f28a6b4 CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a70f018e-57cc-4c09-a3f2-2bbe072526d4 CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76db6b14-9759-4ad2-853d-326ae7f3e20a CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17f36c50-00f0-4e9c-8d78-1b42f33645b0 CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92c95faa-a40e-4c63-93d9-e6d2bda8c20b CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 806eb427-af61-4433-b752-ab684a3a00d9 CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4284e2-234f-4ed8-af6d-91d41eceed48 CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc3a0c9f-b208-43b7-9f6a-939b7c7bb8ad CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2120763-0355-4c31-91f9-df4ba23cdfea CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa64c9b2-438f-45bc-bed7-10134265360e CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d640d229-31a6-45ba-8b01-1f49101755a4 CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e14f04e-b607-4ad7-bfd9-86ea89a2cccb CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68260ae2-b71f-4f80-91f9-e0b3f58be664 CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10ad2ec1-84eb-4fd6-a42e-cb7dd60c053c CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955cf134-c552-4052-97df-983e683f19b6 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a3a7c63-a9e4-4491-a3ae-cdf5c69da831 CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30463e32-4641-4561-b378-703cb3a7cb4a CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a73667b-e588-4cf3-9233-bc2f3d46ce2b CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675328da-a01e-4169-9a5f-580ec52d9198 CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80ac6311-36df-4198-b812-e93884249a8f CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e501e78-a7bf-49b3-8422-676435d2d678 CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0804e270-07d0-4683-b9b1-9a346819c3f1 CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 816308eb-d7f0-4aab-87f4-e7e5088ae75c CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc3a86d3-f0fa-40c5-ad83-435db34af0a9 CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48da5efb-bb23-4947-ad14-78db0462609b CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5319bd7e-ee2f-4b86-bbd4-c28bbd190c11 CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1336e213-bbfc-4448-a5cf-052517fe8e52 CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60c72192-eb5f-4c4e-be85-e3c0e65bbb3e CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058b1438-6d42-47f8-966b-34047dc81655 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee34dd45-ce68-4283-86a3-602c98324907 CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1d2de7d-8735-41b3-a79d-57b771a016c3 CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 615f2d4d-6747-4fb5-926e-c23c1cda022f CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9052f132-1824-4698-910c-c7697a9c9a69 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0b5c5f1-3c3f-4a39-85b6-379eb4b262cf CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703e793e-59d3-4916-ac2a-dd731f7c7012 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 914b698b-5b6e-4ae2-bbee-0b330d9feab6 CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ddb6d1-6098-4944-9eba-7175ac63e70b CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9a6730f-0a64-40be-9c49-9160bb45b9dc CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8eb7d4c-620e-469b-a43a-613f893914eb CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de4d0288-8f43-460c-a85a-b4156bc996f5 CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c5664b-14da-4693-ba4e-373e9d8f915f CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c0f1052-639d-4f8a-a5ec-64f844285d77 CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1756952f-fab4-403d-9445-88134352977a CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11aaf15f-e554-426d-abbc-27b7d83dd91c CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1f62ac-ff6c-416a-9eae-c5eb78ae1250 CLINVAR:237950 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3579428-6caf-46ff-8c82-70f02a2afcf5 CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27dee5c-e7e7-4bf6-ad96-7a007d8e41ce CLINVAR:406604 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41926bff-9fe6-414d-8d35-6bd035de8b3e CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad03b14-899e-42ff-a138-f5a268393e6d CLINVAR:419837 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d78314a-9d16-4392-877e-981f0c97aa64 CLINVAR:419837 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833142fb-be15-4fe9-a769-ce28547e10a6 CLINVAR:230382 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c96e2e6f-6203-4552-b69f-7490946aadc3 CLINVAR:230382 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f5c89b-a1c3-4664-a0ce-97f159adab77 CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bf634f7-c0dd-4168-bf97-393db69fd07e CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45dffdb-4eb6-46ed-9fd2-8fd1e1c23f14 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f61a9670-aa4b-47cf-9353-193cc943e4f4 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c919848b-c13b-448b-be57-2be782431816 CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d09f740-ff63-402a-8091-dd5ae74ea2f1 CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d66d8e-9183-4c33-8734-dd8f3b1428f6 CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a99fd547-b135-4d2f-80b1-8912fa2700b0 CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf747b34-ca17-4b39-a0c8-c176a45d8d13 CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 419e669b-1319-4558-a67a-473c1f251242 CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e0267a-1e9d-46a1-bcc5-7b7f8f60fcd7 CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86ccb406-5d81-4ce1-a9f0-f66fbfc59900 CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9c0c38-64a2-4b8f-89fe-41fcc72da78e CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9774f332-60fa-4744-b247-8de0ef3f529f CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc06f66-9bff-428b-aedd-1bce2c66e8ee CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b09abd1-fcd7-42b4-9063-c82c139c6869 CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e521b078-0a39-4954-aaa3-7f673b381ea9 CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3125bf4f-e02c-496d-bc2b-7cc8d792111a CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aad350c-d7c9-46a1-9d56-bdee3cc4e84d CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0aad272-f037-4caa-b594-5eb3a58deec2 CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6878152c-7278-45a3-a503-43fc77ea026b CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b501a13c-9d93-4e42-aaa3-9539bb78a7e3 CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3a54f8-777f-4705-9f47-5a490ecf27d9 CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4cfc040-154e-4ad6-871f-c23fd6e75d93 CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8640c227-5654-490a-b3cf-c251ae842da8 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9827f14-5db3-40e9-b7e4-1be6b75797a8 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfa2f73-2cb6-47c2-bc30-863acad45721 CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1089a893-1864-4a37-935f-46e2cd39a224 CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9601dc64-03e9-44ca-8980-e270481012ad CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ca2000d-b2bf-4cab-90cb-d66dc110b1b8 CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4870b7d-3a16-46f4-a49f-4240aff59b79 CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe590b05-82ee-4477-8ad2-da44bc6f4b92 CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 842aa74e-036f-444b-9fd9-04348e5dc861 CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf872d30-ac87-49f6-a3f4-6b737a78d143 CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e0550f-e646-4748-925e-714840d37739 CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da5e9b07-2a3b-425e-bf10-1a9e005f44d3 CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65903d6b-e462-46eb-bd6d-84877ebd68fa CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 214ab521-a437-4a68-8bbd-cb7269c4365f CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854ad8c2-7cb3-4495-86ea-be7af515305d CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa7943f3-1b19-45d7-8361-0d584a03ad4f CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e892d773-5131-4513-8460-ce77372aee79 CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c060dde5-b946-4e1c-aaab-2e4e8d8a53a1 CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14eba6f4-1b57-4ca1-89b8-0a734c9ed350 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f22ca3c6-972c-457f-aefb-170bc637b6b2 CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52c012b-06c0-4ad9-8a0f-2994ab3ddba2 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b155faf7-bee9-4ece-8abd-64e7079bc316 CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa40aef-52de-45f8-a135-a1926d9e562d CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ab5c313-98b0-4fe4-9405-8c83dfadd126 CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f302ee6-ad89-448e-ad68-6666d1d59ff4 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b447608b-446a-4ef7-8c2b-4a33db58d475 CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51512d5-afa2-435f-8e97-ac9c7abc8fce CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c686baea-cf00-4160-b650-6db48d5a4a94 CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123aec2b-14d1-41e5-b183-d9f1ccc75421 CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8d8d665-5e68-4183-95e5-8200da33bdc4 CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b216d754-6b14-4228-830c-f9119284d545 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12a2edc6-48c9-4e14-8a31-4d99ed46f2b0 CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b383614c-e1fb-4d45-b94c-e7cec958f679 CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c94adc3a-86a7-4bc5-8467-5365f544c0f7 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d6b96bb-8c66-4a33-99a4-7fb8c4622308 CLINVAR:43028 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44b52126-21f5-4efe-aeb1-1a9522140184 CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802d579b-52ee-4b2f-8bb7-f9359021cb8f CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c979c373-bf9d-4195-8007-c9b1e27b264f CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a829df-172f-40b5-8531-8f769d062e5c CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 007455a5-8911-43bd-957a-be025f7b8df9 CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4348232d-2c8d-409e-aaa0-1a8995553752 CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d90fdbe7-2fe4-49e5-bc93-f9860b10bff6 CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518f797c-24ce-4a53-90cf-f5b7c7e64ee0 CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 974bbea2-b0fa-4ff0-ab4f-7e45b9ec254a CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281a9bce-e08c-4023-83cb-51fc9b2edc6e CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen beda39eb-4f3a-49d1-8fc9-729c277eadd8 CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b5016c-f407-4102-bbb9-e50f75045379 CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57aa6b98-c1fb-4488-b177-99d6ecde3358 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b320e8-c0ab-4c35-92c8-4b2125381cce CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 156c6cca-7946-42b7-817c-701d313740c6 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f578396c-fd38-4b72-8457-60d0f1fdf65e CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 140deab0-c777-407e-9ba6-68a7c2288f08 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f033113-4f21-4e5b-af91-490d26ea02f5 CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce207e3e-67a0-4fec-af00-5ddb93e9f2cb CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423fadb3-6c87-4387-9681-4d78cd04d26d CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68910c24-4162-4a86-84af-f1f745566d90 CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb4805f-f14e-4c87-8828-f20e16d0cfe5 CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen addc27e5-3822-4e81-84f9-4caaaf2add73 CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3601db5-9950-48e2-bcc7-39d29750e431 CLINVAR:180439 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 514b61d1-0a2d-48af-8c07-e82fc4b4a3a5 CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96dc139b-8ecd-4cfd-8a95-b6884cdc5527 CLINVAR:180441 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c0c5073-f986-47d8-9d0e-4fe9d49d92a5 CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e308e8d-cfb1-4b82-8f21-74afb30d49e3 CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81b257e0-3ae9-46c6-b536-fb561f90ba52 CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f436f926-2930-4e0a-b9d8-6f6399d1b96f CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d887c7d-e693-45c9-bd6d-c5ac936ddd7f CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03856cd-7840-478d-b0dc-cdc23e1c966c CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c19cb80c-c0bb-486b-81c6-49192ca4f6a7 CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa371a28-2472-4521-9d4e-bc0a56c7602a CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee44713e-31f4-4b6b-bd30-286b3787e5db CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44aadd41-62ef-4d6f-9d6c-8ac18197e322 CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 221b2e9e-bd5c-4942-a6cc-305bc37b0841 CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d67017e-f1b3-4ded-ad35-f05626e5321e CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8d0c113-a74d-4eb8-a941-0435c556c28e CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812174e7-a33c-4e58-9388-5f88e7eed720 CLINVAR:141566 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 859194d1-eac0-4518-9fd6-197adff89829 CLINVAR:141566 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b5655d-abde-4961-8704-e0c75c8b0ce6 CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8010452-e5fd-4641-a865-b273d83ff145 CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea2e825e-9bb3-41ea-b2c0-2014d53f1f36 CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c686f40b-09f2-45ff-9005-2c41b59d6c88 CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a4c96a-46fc-444e-bb5f-420c3f4b8467 CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0f14656-2422-4710-ad9d-4a0c592a4e8b CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44747770-1fe2-4e2a-9466-43d9acd19446 CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6294cd0f-cd76-464b-a7f4-ee4e9248052b CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91814191-0801-4652-b575-ea66d2ebfd44 CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b31b12e-0d91-41b9-91c0-924ad00679de CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bfb5ea-7cc7-4c7d-a5d2-b1dc53289c17 CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 134e68d2-c89d-4aad-97c9-e3b8856dcf61 CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ec267c-7dc8-4fe3-ba2a-10b10f4fe279 CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50904dfd-c0db-41c3-9d4c-04392cfb7e68 CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1c3a45-0fef-4056-b76d-d543ba19fb72 CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d344d85-4505-439f-a870-5ea9baf6d421 CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96732010-3711-48a9-887b-8270a41dc645 CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 994dfc75-850c-4814-9881-3eb3cdcf928c CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa849c0-57fd-442d-95e8-db80ab8c02bc CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1807149-7a7a-4c32-97f0-280e80a0bce5 CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192ac008-42c7-4e71-bfaa-552d929c4e9e CLINVAR:953025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 955f3b04-b378-4de6-bfe5-13dc7804c76c CLINVAR:953025 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d45822-7a21-42d8-b014-cd2292de924e CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37841732-3978-4f52-ab23-d997de98de9b CLINVAR:2323 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec5023c-033d-4740-96bf-fdfccec58b86 CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ed39200-88af-4bec-9a56-b9d21b21f380 CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18953a9e-81fb-43cd-863d-c754b93d41b0 CLINVAR:664963 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cec05b34-6284-4ff8-ac95-86d43548b5b9 CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874b7f0a-9275-4d80-a553-95d105e263b3 CA645535219 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21a49a2a-5f9f-4100-b9f2-84a3d6c4b37d CA645535219 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413752be-0e1d-4457-a51c-0e08f5ad0488 CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ac20151-788c-4a00-a213-1dc3bdd68d61 CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 649bdb03-daac-4089-ac78-1d3689023de1 CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 281be74b-7b02-4239-8873-dff855ccca3c CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479e9dad-d4f4-42c1-970c-ff85e7ba7746 CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9923c68-5095-4a1f-8ebd-5b0c3c4ce2e6 CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300331fc-459e-4ec7-812f-b80e55943c30 CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 948b634f-9d4d-4b65-977d-6f72f587ce95 CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b052a8d-2480-49a4-9344-414a3e333817 CLINVAR:1296990 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a7e1c9a-c6e0-47c6-aa87-4eae8dd52c6b CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad24e8d-488f-4de9-9545-1a2c2a4ec3f9 CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c6060ac-3d29-4735-8093-1ab602ee688f CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95406f7d-8f96-4788-bb34-67a3ddb7646c CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bf1d906-c68a-4aa3-adf1-62dcf6bb8be4 CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8114dfbf-09b4-4d2d-9e64-361e7772b281 CLINVAR:1296992 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2204347f-7f43-44da-b163-17db3892b99c CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8311169b-af3c-4077-ba60-50cc9d290a64 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 227c125c-fccf-4576-8d81-c6662b9ef9c3 CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0aa098-7162-498d-93fd-2156224d6a71 CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb2c4a2d-2ce8-49e8-a9cd-fbf10fc28b3d CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3559b440-622c-4920-aab0-c059eeaf4613 CLINVAR:1296991 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c2443de-638c-4a49-bb5c-859bebb05667 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd724b4-fdad-4c13-b9f0-a0f54c7066e6 CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63350b10-35b4-4e14-ba68-a5e26ff4a5ff CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d44e1b-9532-408e-ab41-c75fee92813c CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4327b134-0770-48e7-8696-b74ded502e28 CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e51ef1f-9629-4a99-bb25-ce07494ba5c0 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3c340ac-341e-4390-96d5-594bf33057d7 CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09304731-405f-45af-a873-cff10f6ec145 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d0d67c5-1ba5-4f66-850d-60e0c8f43dcd CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c669e4-ce90-40bf-810d-4d5f2796481a CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdee413e-b47d-4237-b516-07eea2979650 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171ec523-5703-4c60-a020-eb96dea72567 CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50349853-05d9-43a4-8748-dff6a2071850 CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0d588c-5675-4ea4-8968-e778462ae6e9 CLINVAR:659938 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab8109ca-f079-48a1-9c64-a4eb86a63357 CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b475461c-f1b6-41c3-8493-f19d5aa9404f CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18468646-50ec-4563-8327-0c7d3ffa5bad CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3347b2be-836e-4c93-a363-04d89817ac54 CLINVAR:1296995 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e702382-c28c-4259-b0c8-900b1427229a CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29bbd5d3-2a22-4154-bd49-f82854ba9562 CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe2b5f23-56cf-4096-a63c-601f467afdf2 CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ef43c4-f422-48ed-a076-5bce9b241bc8 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba784bf5-97a9-4ac5-b6a7-f6098b86fcf5 CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a611432-5c70-403e-9795-f75c045d4f3d CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen daefce84-d692-455b-965b-02e628da1600 CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea2b03c-62af-4edd-b80a-6e0599e52401 CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f49ec98-5340-4371-bf73-20aa77c98cea CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435906d6-7965-498a-892a-f4534d5f70f6 CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f16208b8-33cf-472e-8a2d-9d7678ea97b1 CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd2a327-f048-411d-afb5-a83852e647e4 CLINVAR:1172526 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37dde7de-d81b-4bfc-ba97-62fba9309fc1 CLINVAR:1172526 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea94373-1686-4001-a387-2ae55a154465 CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen faad0939-3039-43da-8248-1d9beabe4700 CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 852019cc-f24f-4fa0-9862-1f90ccee5dec CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e213ae2-8167-47cf-9bd9-27085f77eacb CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac571048-82db-41c9-8af3-fdef812c8664 CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44bbbf4c-3cf8-4330-a39e-cbc6a926fc0a CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159a93e7-f6dc-4cf8-a196-235e98b5a69b CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b4de28b-c367-4674-8226-d719aa2e924b CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3de587a-c37d-4793-87f3-6f2a236dd726 CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 571078b4-5bf8-4f34-a012-955736111f52 CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c3da3b-081c-4a28-97d8-6da2ec20010b CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26d3c938-c882-4b62-ad76-18d205320908 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39fcf5d5-786a-41ff-a337-01256f6e51e5 CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93f7a554-6bf4-4a36-990c-9f11578bf930 CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f91e95-82c4-4b6f-b6dd-f5340ac1d762 CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3f2d729-dd8d-4942-bf9c-572f1e5b3972 CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e04b69-03f1-4ed2-a1e1-95fc63a38837 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43cb2029-03f3-444a-9db8-68b84fb5e570 CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4179747-c8d8-4cf9-8319-7e9582f08770 CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e8b239f-a9bf-4e8c-9e9f-e259bd4fb0a0 CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6dfcab-a023-4ce5-9c8e-6d3bfde8e9e1 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 935eaba4-3f49-4c0a-bfe5-ea2e09286802 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 425fb091-4862-41cd-b09b-20a6f4353f65 CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ea39833-b878-4985-8c0b-8d1f3d139c5c CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130168c4-9ab0-442e-bb56-d59d5aa01e98 CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c850359a-4d3c-414e-b857-686af4ffb163 CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99ab914-790b-427b-95a5-17f5424b3294 CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91a22718-eeaf-4cd5-a14d-82236f30c91c CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7121a591-f591-483a-a8a7-042dcc43b318 CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02c38acb-aee9-4fb1-b989-2bf8f58b1bd4 CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c895a67-d3e8-41e7-abc3-bf8188af14c2 CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a03ec87-badd-4fa4-8138-e306312160e3 CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940a50c9-3a73-4363-af2e-0a20501dca94 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d648ed5-aa2e-46b5-8a27-0d90db808ed2 CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79eeae70-08ad-45ab-bd31-b1d398219a4b CA386966233 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6b3c974-2928-4321-84a3-fde2729733d3 CA386966233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a214e5-669a-41a1-87a9-4e823ba6abd6 CA386966092 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d43d7acc-79ee-481c-83d5-a0b2b5936d4b CA386966092 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d653a1-d528-4319-b7ed-4cf0eb2fcbcc CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 649a1b0f-ad84-4ce0-a9ce-efb097e5f9af CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c927e469-5c05-45b4-8dc7-3594354ae378 CA386959897 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f44ebad-1d67-4cae-b053-306271c6b717 CA386959897 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0b35a6-c259-4bff-bb45-1a87b86d3c3b CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f49084e6-a1b1-445a-bd59-7a718dd1480d CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73734a8-ae31-42ba-a64a-0b1630ec4610 CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 129eb44b-bcc0-4aa0-8002-56f32db3b246 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33fb75b3-f919-43ff-9445-04a96f1fea38 CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f286141-7247-40c8-99f8-620c67489778 CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7342790-b316-44e4-b9a9-95f05637e05d CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be05ea8e-c3ec-4065-9c3d-c94ff5883dc8 CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd1faa4-ba73-4eb6-8c97-f42ace8e4e98 CA386959690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c58e6f47-c1ac-4d9c-9f26-6fbd56378a04 CA386959690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b03bb99-2302-485a-9870-5063004a48b2 CA386959674 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ded55e3-b1a3-4bad-8a42-e6d5588f9010 CA386959674 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32639823-4300-44f6-881a-af2c6b55c6e8 CA386954869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ed23fe3-af7d-4023-bfca-ad1163832587 CA386954869 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f13ddab-432d-41c1-a050-ef1ecaf7bf6c CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 736c87da-00e1-4ca4-8803-2f33401f5afb CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606a777e-f410-4e08-8628-4da97f3f4b1a CA386952489 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85485d21-c53e-481d-acd0-f1b9dfccc57c CA386952489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de31c339-146b-43e3-b42f-dd8e43d7b79d CA386965866 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 502744da-4436-473f-8fed-0e842c69ca08 CA386965866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3265d411-525e-4b08-9397-25bc24271c33 CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b697215-2121-438a-820a-859f560c68c5 CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13e32f44-1413-463d-aeaf-f0dc6e8ed09a CA386952583 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen deb4597c-3e76-4d8f-a40d-c38a41bd2501 CA386952583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d121034-819b-490e-a6b8-eb83d2fcfe3d CA386952580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd6fe3ad-b66b-4842-8517-fe1eba109f1d CA386952580 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea135ad-4c87-48a5-b1f0-692b2fb5c3b2 CA386952573 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 534bcc5c-de8f-402a-885c-497ac1ade72b CA386952573 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cbfe88f-b4d2-4994-944b-c86e64ffbcca CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c63d1f3c-07e3-40bc-a6ed-8f02bfda9c2d CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ea4001-75ae-4087-862a-30c1b8146bf4 CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 464425d8-72b6-4d80-895c-84a28b7da618 CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7fcffa3-25d4-4b02-9be3-aeabb9166fd7 CA2480594443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1767979-4e82-4f86-974a-122ca550eff3 CA2480594443 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340d7356-eea7-48d1-9621-547bdb412e4f CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8adf1b85-1008-4ae8-94a5-3c1762807787 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b3f882-c879-4681-a393-cc6e9a438182 CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 504d08cc-35a8-4b82-a744-bfee17d2b604 CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6d727e-dfaa-4d6a-8e9c-203dcc013e09 CLINVAR:14933 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 938674c8-a169-4aa0-80f1-d54dc316545a CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86a0989-e5b5-4305-a788-8ed1605cb02d CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c8249fe-665b-4f42-bacd-fd4e29555e07 CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11868f3e-63d8-4dcc-8976-4d0b063107aa CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cff65bf-7bcd-4c34-b11f-fcfc867a35c9 CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030c84d5-dd07-4baa-a891-027357aeec98 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c0af795-518b-4dd6-b300-eef4889893fd CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f40c806-0c17-4ec9-aa83-a45a87d09857 CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd46b0d9-4adc-40a1-beef-be7005af81e1 CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5e02f1-4b20-4913-9c77-9cda92e18c36 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70b5343a-160e-4b07-83bb-c11441f417d8 CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02bd058b-b7b5-4872-9fee-71651cb0577f CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 199211b9-4b62-4824-b057-4b876adcb4e4 CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 048170a3-599d-4b02-9d0e-7c8475fb2766 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95a95949-f7c6-437d-9ef5-04107534304c CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8595181-7cfe-4a3c-8d11-a068ea9b72bf CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4c44eaf-8a5e-4803-9842-84502d3724de CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc051e0-a26f-42f2-a196-34c6fa2cee9c CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64a6b9b6-a720-4265-a716-c9bd83ff04af CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a5a3a4-ff13-45b4-a24c-6405564ff218 CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4845d7d-0d0d-4987-8294-1b8a494adee9 CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06eca90-3a25-437f-8686-d6987e00fc77 CA386965780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb7bbac8-1671-43db-889c-8bc26d28ba99 CA386965780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5412f8e7-7fc4-4140-bbab-b5b0b7fd5f46 CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1bb7cde4-f7eb-4cec-a994-bfe5dccf8f1f CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9501c9bd-3ebf-4785-a888-501e5ef002de CA386965770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85767fc9-d610-40c4-a8f1-6bb4e46610f9 CA386965770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae55c919-3093-444c-ba5a-2c3e4f25850a CA386965775 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3a85e62-7242-4184-937c-ec92fde5ddce CA386965775 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5b4b9c-5c41-4c0d-9e62-19cb49a5dbe5 CA386965798 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd5040d0-2ce2-4bf1-b493-df5e04be5d5d CA386965798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f30a449e-420d-4ee6-b43e-9c6f2c2e3409 CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66679803-cacb-466a-ba41-a19206e460f9 CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5b0ab2-8458-4075-b54d-5f6b47b28410 CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64857fe4-e9fe-4a0e-83e1-527d7b7d3076 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70dc251-92e9-4931-81b4-b915eeab0157 CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d29c713b-26c2-42a2-876d-a9ca6f6eee56 CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a432d4-4db9-4643-a63b-6f1411dc605b CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16531f27-da09-487f-8185-33f2630d4cd4 CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9765482-8906-44bd-8b9c-74c4b678ecbc CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b42a0f72-b18c-41e6-a62c-0c9924be5bdb CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee6fe62-ed6a-4e7f-8128-7d5656016e52 CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a90621c9-491b-4902-a7a3-df14af2508e7 CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d35f25-01c3-496e-a87d-2cdf14849baf CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73d2e883-018f-42b7-ba8f-c7b77697f8f6 CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b256fd1-bcb8-44b9-99d5-6ace8776f77c CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d221f187-6507-4f38-ab11-4c5ef90066bd CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9d1b4c-8262-4f98-b7d5-2672ddd28e58 CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc0511c7-33a5-478d-8b5e-a118949fac21 CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a622d55-c9eb-4173-b62c-b1796a7cf890 CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2646c8dd-cb56-499d-bcb3-f74cbdc33cf6 CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c874c2f5-82a3-4b4b-ba08-7bbc70c80426 CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2dc049e-20ad-4ba7-9965-16032b175c16 CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e9ec2f-57bb-48d2-bb59-462587c26977 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7503bfc9-0b5e-4da6-9efa-34d4e86b29da CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246ac5ce-85c7-4932-a65e-fa0ae4b8aabc CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0dd217bf-6a3d-4d2a-90b7-fd852b9bd9b6 CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b998c2-a7c8-4883-a3c5-5ea6f153f3c1 CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60a2a327-a57a-4b81-8667-2e06174e30d9 CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a934da50-2107-4c42-ae65-b2300ab24e2c CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e8677b4-7b42-4590-84ab-9e9dadaa0cee CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f61d8e77-ff92-4dae-897b-0797e93ab0e4 CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c7ee432-4979-4555-a4ae-029d28468b86 CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e61161-453e-490b-81ea-2841e77a8a7c CLINVAR:181236 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ee743af-2b91-436a-8997-da3e77226daa CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bae9ef7-c5f0-4d8d-aed2-dd687be40799 CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 831b0a69-324e-4ff2-8c85-efd7687b9354 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7089c06c-8f68-42e0-bd43-74a422158032 CLINVAR:181286 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b938e263-d601-488a-9a91-d338e83393ce CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4044bb-bffc-4bfb-9789-dc4b6a76a3a1 CLINVAR:181293 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8519c506-1ed7-4761-aa1b-5ea7aff5c2d8 CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8104d070-ddab-4c7d-97a4-e186fb9c0110 CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4f9b283-1bbd-4493-a60f-46edf270f382 CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5954f8f-b5dc-4d9f-8622-4caffbe46ce7 CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11978b17-94d5-4622-b857-edbec62a4955 CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448571e2-0ebf-4a53-be39-e3abf6518dc1 CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eab67b4d-ab09-463e-8635-84d6c8029141 CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f83687d-d0d7-47e2-8d80-ebb579c61497 CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25e5afd6-0b56-4a24-82b3-8b54e88ba727 CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a44f5ce-7cd0-44fc-b85e-6ff4d6eeb78e CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b18a8269-2c55-4a1c-974c-f236582e2eb7 CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49d7208-b59b-4155-94c7-6e7d9b9d7e6d CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd4edb92-ccde-4465-a979-09eddd40042c CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9164079e-dbb9-49e6-8957-5326427070df CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2de75324-ec3d-4c7d-826f-fdec41e4c484 CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69476f61-43c3-41c7-93b4-12567b286a17 CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e397fe7-d0a3-4f2a-a138-7ba19f5ec80e CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca3c218f-215c-4152-aa7a-8724a49ca1a0 CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86b4a38b-4f76-4814-82f0-95733f4dada7 CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518af59b-8e57-4a44-a2c2-b3007944f50d CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a6fe3b0-056e-4c71-a8ba-aff449ede6c0 CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b01bda-27c7-40fe-b539-f035a91a6880 CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f8236e2-e4ed-45e4-a199-8da54aa6d2b5 CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252c9e9c-78a8-43dd-b311-a85f2196f3b9 CLINVAR:1327615 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf985571-e8fb-47a9-a18a-d91af9411064 CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ae10ab-c48e-45f0-9860-7ef8037d2434 CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac4f237d-4728-4de7-bdad-add314b4ee55 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519d7b1b-c99a-43aa-aa14-673f9723a5f3 CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c63ebd2-2bad-4107-9697-138b283ca485 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6620d7b9-4459-4804-b266-94950d26e163 CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55b72980-8813-49bf-bd69-095ecc62b9db CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d895f598-b011-43b7-a944-fae7bb18432c CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a820f91-f541-4bb5-aba8-2d0244ddbf3f CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805dacca-62e0-4d8e-85c9-92e866f99ed5 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0e90b5b-7543-4d01-a91d-d007c3bb240b CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0e1d9d-6964-4866-9293-e488de9aa9e5 CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 498b722e-9761-464f-957d-be028f932911 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a918e9a5-18bd-43e4-b5d0-6c57f0a29619 CLINVAR:1328511 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e7b69c8-de03-4790-8d0b-42d6f75de453 CLINVAR:1328511 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e2b9de-c055-4e20-a73e-0b25a96f48c0 CLINVAR:1328512 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a342ed5-1b61-40dd-9f98-6aa11d12690b CLINVAR:1328512 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8472d00e-0ebc-4f2c-980e-6be0127bc52a CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be812c69-37a3-482c-8087-292d8b7459f0 CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd9573a-78ca-424e-8312-3383387687c5 CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82906f12-6432-43f3-808e-7a69202c3cbc CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aafcaa4-100b-414f-9fb0-6217d4fa4454 CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3589947-6121-4756-8eeb-b78ee009e2b9 CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fa709a-c74e-43e9-a328-9c60af1e3410 CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ea15f26-44e6-4635-87bd-e604058f9049 CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d4b477-59a4-40af-985f-722a1e67ee57 CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e881b1b-8bd9-4178-8fb1-51dcf82f43a0 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e63804-53bc-47a8-a201-0af5b04f902d CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39b650ec-67d3-44be-add7-28f73a289d08 CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c03e7d5-21eb-42f8-9ea0-d6681bb33914 CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52a88ba4-f481-4e85-ab2b-ad550d03b0f3 CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fd1142-c199-4010-8e23-0a822ac85b1c CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f6c052f-1a21-4ac8-ac73-f35ca6ec8b49 CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c10372c0-7330-45bb-831a-66d8e7e4de79 CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c8b7a4e-8d94-439c-99e6-3852bfaa0da0 CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da62fe18-0788-442a-8064-cef25c47d2a1 CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56262ee4-507a-4725-b9b8-5e4933854d86 CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bbc382-c574-4e64-9f8d-3b82737b20de CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e08b80de-9667-492f-87a7-2d45a57a626d CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0f65a0-d742-4233-a424-d7c63a462914 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4615afd8-4a1f-420d-b257-7ff7a8f04402 CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a35db2-17a2-4b85-9cd9-5aec68118ead CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2a162fc-cf16-493e-9ae4-e15c1b9a4954 CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95628795-8cee-41cd-afd3-bdca06c5b775 CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23c5bc98-c6f3-4978-82bb-9a8aadf90425 CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a730cfe-08a8-4c9a-8446-b16c4f3273c5 CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 696cc1d7-33cc-44ef-bad5-f87b12d5e400 CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f77713-418c-41bc-aee9-a68ded2c0803 CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b5e3252-3560-40fb-acdd-b9f862d2c56f CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 697b6555-d518-4301-8d46-c62269344209 CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da116d34-ebf2-440b-a2c7-c43f289cfa08 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c43cdf8-908f-4b3d-8637-2d98e8ce642e CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d645066a-c9c8-4ba5-9d0c-f38f97660ac5 CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c1167a-caf1-4d83-b926-ab067b9034a1 CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd014e62-cf20-4ff5-a6e3-e620c4a7a305 CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d66d2c9-2d60-46bc-9114-171a664bfac2 CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e700c16-61a4-477f-8e30-315bb3a12616 CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d87d191-facb-491b-a578-10989e7b6abb CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7e8e113-fa9e-42bc-a0f6-25f62956e55d CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed0e193-3e07-47a6-ae16-ba9b12c77c6c CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b28d07f-a37c-4008-baa3-27be04815912 CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db049eda-4f98-4893-ba89-c144c23c1fb6 CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75c3c975-e06e-4128-b87c-d12d256bbe1b CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 406894f9-ed36-4f2e-9aaa-3344be4a8085 CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f702e179-f940-488d-b941-47866c04b9e3 CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e122fc-c19f-4a00-a0ae-672dce990e5c CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ddd9064-a423-4ea7-bf0a-4a9b81c47110 CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed4b104-8486-428a-b8d3-8a7f16f56f69 CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77d042e0-662a-425d-bc34-6e3bd7617423 CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ca408b-9d74-4857-9cb6-d3ebe43e17aa CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 504aab2e-897e-4a8c-b622-cada7be3c9a2 CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c57e52-4fe1-42a8-9969-668696103267 CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d34e4b8-34d6-48db-a3bf-175188cac850 CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b26699-7870-4552-9b4a-0cef87aae0d8 CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55842bf9-161d-46bc-b214-495cdd5a423b CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7347dc49-97b2-4691-aa25-5640a2b9fef9 CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d911ceda-b684-4180-94c2-bde06ec11401 CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a920c893-59ff-43a9-bd6d-f74f4ec5e084 CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fb5748f-071c-4e40-b6b6-d88bf83b32cd CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe53259-abd6-4e0d-a9c4-70b563b37361 CLINVAR:1330358 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0d92a1f-ee73-4b0c-bc03-71920b168296 CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e11b26-9745-4514-a071-4feffc27964c CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aeb91426-3171-436c-95a9-dd6d466da35f CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efcf9323-e50c-4407-be9d-64e010bf2699 CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa262bfc-bd68-49fe-a8c0-209584f95ebf CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2edba5-031e-4cfc-b07e-ce8313d63140 CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 942dbe1e-0e63-4827-90a8-47010980be74 CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad9b53d-0f03-44b1-b136-71584e5fb69f CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f37d4ff6-5218-4b8a-9faa-7597252c44f2 CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d55e7897-7c12-4322-a0d7-61bbbf0969c2 CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b60dc9f-6283-49ea-92a3-3226d834660b CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa1cb0f-d296-4dac-9d7e-5e879e7a6a0e CLINVAR:133219 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc647af7-c686-4642-bc48-d49fa73e1090 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8c1474-c9fc-4897-b959-b0fdabfc8c74 CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49d4feb7-7a0a-4cd8-bb73-c6bdc4839ee0 CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb87dae0-8bfc-4739-aba3-40b75ec65d67 CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 203a4a4e-ce5c-45b4-a4d0-c51790c579ce CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9419201-463b-4657-839b-74244d51c5e3 CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76e1cc81-ed8c-4a8f-8b84-bb2dc5a1bf2f CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a7f652f-6f54-46cc-9346-acee0962b239 CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0060e88-c8b5-42cc-b72c-64ed06fbd9d8 CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872a5d74-2b3e-4552-b032-8526e11dbcff CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48ddbc7a-c583-4bfb-968d-a656e283bf19 CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d6ae82-eede-496f-b06f-fd64a2c61f7b CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d499ee22-ec40-4f4f-84b9-e8466d348023 CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baaa9e35-a374-4bee-8e9f-12608b971cea CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4ece320-a042-4f99-972e-8c7a2987e330 CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea42bca2-0cfb-4879-983b-460513e4366f CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5212813f-6c7e-4183-9cbf-59bebe5a9bca CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874279ea-fd2a-4af4-942b-5c21ad50bda2 CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d94ec316-048d-431a-b3c0-524d8f502d9c CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922bbad6-2203-41e6-8b90-36a34fa0bef5 CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 734baace-ebe4-408e-93d8-b6f67da18d7f CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53d4eaf-fd48-4c3d-8f7f-96a903d5d892 CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fae00af-0219-4249-bb00-c803b3eacfe5 CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aea16bc-3238-435a-ba03-7ed23d5db992 CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37233f94-5c8b-419e-a664-5a3460e6d871 CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaab0ef3-7078-4e53-9ed8-3147ac01fc1a CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4875f3b0-9045-4151-b9c9-9afef6b43e29 CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80eaa327-ffaf-4435-9a51-7d3ed26b4a07 CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e4cbe79-40ff-427e-bb0e-a3b5a0b8f92f CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e974820-7e8e-41a5-901f-2b5b4d69c913 CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e1a3673-4434-45bb-b35f-143f64a80655 CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0904b024-55fe-4242-adf5-4604a8d4bc13 CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 775d90ea-b35b-41cb-a8a5-d1457fe9680a CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cda56e-d7a9-4116-8022-0100ec0c5493 CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79720b52-15c7-43bb-b7e0-6cd040a61f69 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcde0643-56c9-49b9-aa96-eb982114be5e CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5e64665-0474-49ec-a336-24f5e26d2d6f CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d0553e-9d0c-4d63-866e-fa7b9903516d CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c541e562-0b2b-47e9-b0d1-39d491c63324 CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2096b65a-ac96-4a59-a605-6322b8eb0116 CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5e75b06-b852-40a7-ba5b-253001178d4b CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029e5da8-1b5d-46b5-b68b-051b23d17e70 CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b334b547-86cf-4121-abfb-eb663cefc93d CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49431752-bdf6-4bda-9eea-3003bf1fd2c5 CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78ca068d-d51a-4c1a-a981-08da7b19bbf7 CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a80887-b6f3-4753-bdb6-7a24b065bb3d CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1b64cb6-6268-434b-9e24-5159e9016f1d CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36c951a8-2794-41f1-a17d-a02832646375 CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c0756f5-86a5-4e4b-999a-071781730f82 CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6424689e-1ac1-4f5b-a7bd-8c3ab4d8c456 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cc48fc5-8322-421e-8af5-fd826cfa4e24 CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c1ceb4-66d7-4ce2-9eea-0359110f628e CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a2c5519-ec9b-49b5-8cd9-441d04657e77 CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7cb04fe-c865-4692-b6db-aa9be95a25f7 CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dce135b-d30f-4412-9054-3eb16f58a7d6 CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f062b9-9082-4347-b74b-3fe5785a3cc7 CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14df1c9c-b196-4c48-9065-0a2b3ef61c74 CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a876f8-9e3d-4e62-9e76-b01a360dfd6f CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efd07d17-3826-4fdf-8db5-7be46008a223 CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c2a14fd-f4d7-4116-b344-65365fcf1b4d CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4101fb4c-75e5-47e1-8cc2-5385701b7b03 CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100585a3-d072-449c-9667-f05025e6db20 CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8715f4a1-2205-406d-9ed7-bf1595f20d93 CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1caa34-3d7a-49b5-82c4-a43a361426d3 CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b9291e7-84ff-4c30-9782-a3b0de5e0834 CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6363d8e0-e0ec-4697-9bbd-1d31217c082b CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b45b817a-4ce6-4377-80b0-954ebad735d9 CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828e5e99-b613-4f97-8433-e6cd947d87b8 CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60c91fb4-d9fa-4f30-99e9-fddc6f2d79b7 CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2794f455-0bb6-4986-9427-1233bcad953c CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a15976d9-874d-4612-bee5-2ec565338b62 CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0166e112-fe7b-470d-9bb7-c5acf81fc3a4 CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 535b845c-36c8-4fe4-a865-31a9c614b55a CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79bf8ee-b142-4442-b8be-d10e07780663 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55e6d00a-60a2-4feb-bc0a-03558333cf0d CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3744a272-525e-434b-a772-d4bcf8ede27e CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8eb8c2a6-0d63-455e-8464-0f6332b21c7a CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd701ed-f155-4f7b-b316-3d3c1e292e7d CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e5d379f-57c7-4350-b3da-21630917158a CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a150c5-1488-4ac8-9e41-3ce4095d9e4e CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fea82bd-4685-4f4c-ac83-ebb2348e896b CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc09ba0-9fe0-4189-b38a-ee36438f0e11 CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fbcf349-1911-46ff-b404-71b9e85990b3 CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1667d502-fbd0-446b-a9f8-7bc9e02629af CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 200c8bd3-98d9-4aa4-87ed-6ebb1af9be4a CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb60f09-74f4-416a-8b43-49807048554c CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48c0b3e7-d831-4c8c-b3e5-bef784169522 CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942eb50f-aa9f-4965-b878-2141419019f4 CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e06f6814-ed3c-4eee-97c2-395af2565716 CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d1e83d-694e-4abd-9246-cae567d730d5 CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcfa4aa1-dd4b-40df-ac22-c262af9e108b CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f103fb34-07d7-41aa-8af7-b79ec6ea2be7 CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c817e7a4-434d-451a-9066-e273a31a56bf CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83243c3c-b825-4308-af9d-6204dd81e406 CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 639a392a-8455-4aa6-9e63-98a836702050 CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7151c2d-04c5-4b81-b5ca-6fb99b50ad98 CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c7829a2-c99c-4242-a3fd-d683b32f81d9 CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57e963f-494b-495b-8f9e-9346f5236714 CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73930720-2879-42fc-9078-87be3b3d781d CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac7a7a9-703c-467f-82b2-6a0e97cdb229 CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c23ccd6-f56c-4764-99f4-c8ad24ca909f CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bba0ca3-339f-49f6-9539-b86660eed8ac CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc05d19d-9239-43e1-8ea7-b5684516ca5d CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c59e3e7-3fd9-433f-bda3-01f51d9ee070 CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97ec7a1e-493e-4c05-adf1-2c319b95ed5f CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7268d2-b846-40be-9b5f-591fe2e42c91 CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86e4402b-5c74-4450-83b8-dac0dad2a1c3 CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ec34c0-583f-4bde-b964-34a9cd090b32 CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5aa6f94-1b25-43ae-b028-b6d3eb28cf08 CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ef611a-62cb-464f-aef8-2bfd78e15d3c CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a57615f6-372e-4719-8615-4e14f79b521e CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8435ee70-22c3-48b4-8758-d4f012f2a592 CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c471111-2289-4859-9cb2-7f30b3f35e73 CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20befec5-c310-42c2-92e4-bfb96a771889 CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db18d6bb-4d26-496b-8471-f29df2be5fe7 CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec4a5bb-5025-44e1-bbdc-1297813b9cb7 CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc52f8c8-8d82-4cd9-bf45-3dcff1715ca7 CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b54e80-6459-41d2-80ae-6ee36c9eb8ee CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0efed25e-b5fc-42f0-84b8-3454891be651 CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da09b2c2-778a-44cb-a700-07c7bdddf056 CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 431917a3-d38a-4583-9b7d-c182b9a8c2d5 CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21cc1e73-6177-47ec-9050-dbe6da7e8428 CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23d2c7fc-1e16-4d23-9f7c-de1a5853f082 CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1884c281-69d1-4843-bcbb-74bb17152a43 CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b8c4783-5fce-4e07-9880-5e72eb38ff5e CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b7a8cd-908b-441c-8242-da59a501f811 CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d92b8d5-be15-43ed-9d2d-b1c79d585700 CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef744353-b8a0-4cbc-9fd9-946b951f2067 CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2982e123-5674-404c-92d3-077681912d0f CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db77f3f3-9f78-48e5-a32c-c883708321b1 CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e20b521a-fbb6-46f1-a2f2-52fb1bf3747a CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e97eb028-6ec5-4dd2-b39a-e66e7cac4fb7 CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3853bf65-ae71-4c76-881a-1857e71d8c19 CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 046d8483-c0bf-4897-b5ad-69033bb09837 CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4160e605-c22c-4699-ae3c-215085c8d044 CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c10083af-4ab8-4c4b-bff9-35465c417521 CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48d454dc-3423-48bf-bc40-b6806541708d CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2322bb9-e409-499d-9577-4ae138757ed8 CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52f0f759-618b-49a0-b10a-acc1cbb4bc16 CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7edfabb-51a2-4c04-9eeb-bba4e6db5bbf CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9af13233-6776-430f-bc52-01ea6c7ec1f4 CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e25913-939b-4e77-8a42-4e786e334f18 CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c81da9a-8132-406f-89c0-446d0c839bd6 CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd14694-27ed-409b-92b9-89ef2a4dc36d CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3343dc3c-6f1a-48a6-9b46-802c03aba290 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7e97c8-b432-4943-a6c4-3925eeb7ab23 CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0644a57-d696-439b-a109-e954ad4ec61d CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecc9425-513b-4c76-9042-ff2af1596004 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfee48ef-8c01-4559-a77f-7cbf72555abf CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d49aef5-904d-488c-9ae6-34e96529a623 CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8f8b53e-8d6f-4f53-91cf-aba241c68d39 CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f7ad25-3ba3-48eb-9700-a9028196613d CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a30fb73-19e3-4de1-8083-a3bc62fee68b CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdde36bc-a2da-4714-b8dd-9f0c4dd8f9d5 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ddf70ca-a34f-4187-8a95-1caf19784e25 CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d46c48-3487-444c-bd00-d62383355b43 CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 962f4b75-1d99-4256-b612-30e3194b40bf CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e1a636-ee7c-49ae-b06e-cc1811cd3e60 CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44ea4bf9-7aaf-4254-944d-2150785cd1c2 CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b321fe29-5d98-4f36-bb33-76233e0c00ba CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13459356-e2b1-4c9a-8c69-902768f201e7 CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f5421c4-8f65-4e85-b4d7-ef4f970a8343 CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70061492-3c78-42ef-b434-27daa77f21df CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91178cc9-6add-4916-a13f-e05f5580614d CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 49f30abf-75e6-458b-8296-bf0dc14e4e3e CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c9468c-1da8-44a1-893d-d3cf3f2b9c28 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30898113-7418-46da-b66e-f1695551d0f9 CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561cdec3-8837-4b0a-adec-10bc94af7671 CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d3f11d1-300a-4003-8df1-f84eb457cac7 CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe7b90a-83c5-4348-8c9d-3c53317e2230 CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd1e2151-5435-447e-bf49-6e39c235cf94 CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb87937-f245-49ef-8b78-865ac7f2f579 CLINVAR:1334147 biolink:genetically_associated_with MONDO:0010894 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5733431-10e2-4c72-b404-e06f3dbbf448 CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dd9189d-afc6-465d-9208-cc511ccb8400 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9352fb82-1c86-4e89-b998-d97698242014 CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6430a3-e780-4fd7-a2df-d9bef9c175ff CA386954873 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34fd5119-6958-4dc5-adb9-d746a4b4db01 CA386954873 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c225fa7a-d43f-4185-a0e2-7baecc9338c5 CA386954880 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c379c8aa-bced-4b98-b3a7-30823baee99c CA386954880 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6689ce0d-5e49-4c42-b144-0cf639e22bf1 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bbf55851-7038-4dad-973b-85e127777aa2 CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec06f382-b671-4257-819e-6fc675d43614 CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b2469f7-2f00-4060-8838-8a85dc48c7b2 CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775be181-03bd-4808-b7cf-246ddcc3c6c0 CA6831699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71d9e2a3-4e4d-4e05-8b62-cb5612e2ccec CA6831699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86377c0c-0cf9-41e4-afef-a49299e74adc CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38799377-8e19-45de-817f-cda4e0a7a7ce CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbb721b-759b-438e-8be6-bcbf923ccd53 CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9dc5588-c90a-4ea2-936b-f9b9725df7d6 CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d46f1e86-4122-4392-b96f-5bafa17ce2d0 CA386965163 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e6fccd3-8b27-401a-b0b2-174f6d257403 CA386965163 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a97cc36-375d-4b9e-bcfa-76255a44c93f CA386965448 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b1ae944-ae0f-40dc-a6f8-b49ba1f66429 CA386965448 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92e8351-2cdf-4a01-b861-efea912c6a51 CA386965434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9f18088-333b-4102-93cf-111f011ca8f1 CA386965434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9418e1eb-0833-455c-92b3-e9d608a5ed01 CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42bde5ff-11ec-419f-98f9-e660eebd456e CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab1e780-d12a-4c05-803f-af5daad491fc CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2da30cc2-6b9d-44a8-be21-0a0f7983016f CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b0fd6d-931a-4230-9d52-e01a36b7e3f0 CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45fe3a77-5904-4321-b8e7-eb614e45c29e CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95cd0671-f5d1-4cb8-8ded-f34f78ef0c00 CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc40dbe4-e65b-41d9-941f-40cd5829af4e CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d13bef-61cf-4fd9-a071-bb3c47a041fd CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5514095c-f91e-46c4-b3a2-67eb1c919ba2 CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a48c8aec-9244-4481-8ff2-8d3173ee11bb CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 517e01e4-7602-4867-a99e-635fe580e9ad CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe22849-7812-4905-b58d-1011a6c57cf9 CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75470e4d-70bb-4cfa-82d5-9548687804d1 CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae69275d-eb24-47ef-a8ca-fe34e4a85ee5 CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6ed46fa-2ca4-41e0-a3d5-0e076bd6e4ff CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d86d512-2217-44e9-a383-d24417149dcf CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efe7d475-90e5-4730-8d26-34511c989f86 CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a594c19a-4972-468c-b94c-a013830eb663 CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 948c730e-97df-4dc1-bf0c-9737ff0df503 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45797f33-3151-49dc-91fd-675c9093303d CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25274f2b-2e08-4e2b-b7b3-7c7f20d648ae CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d2fce3d-4146-4acb-9825-3da8cb7bc523 CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80cabacd-f46b-47c0-bec7-5f132445edef CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c645d4f-9283-4a68-a481-28e673d73d6e CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2557f3db-9eb8-45e0-889c-2372358f0abe CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477bd96c-4479-4fa0-9db6-e5e8e5b90fc6 CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbcf82a7-0a16-40de-b15d-9eedca549fdf CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e621a627-e462-47b3-9ab9-b04fc4095800 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7c96b05-6243-4485-99ec-91b7d198b300 CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 475f4633-846a-4848-872d-7d1680d9af9d CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec3d3823-0274-4707-ac7d-3236e38b7a24 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde1f34e-3976-43d1-8a2b-f091d6b3fe99 CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ea17edd-ec75-4357-8b52-ec7e13894464 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f19d10ec-5432-4c49-9734-3159f6278296 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 393db63b-e765-4b80-861b-35dc2ef88916 CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41709231-c8c0-418f-8ec7-3b08538a6018 CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01e071d2-dd32-4b4e-9a2c-ed1f026d50cf CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb89b096-1f35-4152-ab7c-f7b8449606c2 CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57dc449f-7e2b-4abd-8590-9a2df4c94eec CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e711be-c253-4663-a949-fdc2acb98b18 CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3afa3f03-7938-479b-b5e0-a5225480ab85 CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd4bc98-6780-44ce-8890-686077974ab4 CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ea99efc-9283-4dc8-b74c-93b9a080e303 CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba73ab6-07f9-49b2-9cef-a92dc97290b0 CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4159f52-60ab-4dd0-b6ba-9260ab0ce61b CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78064b7d-1fd8-4205-abd8-37061f5daa76 CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51bf0461-e9db-4cc7-8a2b-54022a2320af CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359f0b80-5ace-4ae1-a4a9-0a963f41717b CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f053a652-1bf9-4206-96ee-bdcc4c190209 CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e9ebdb-31da-4823-85a9-09bbb08e0c1c CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1643582-6b68-4f6e-8346-9d3dc5f6c8cb CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2067602-4639-433c-b116-9ebd1ca0aac8 CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9811a49b-9ccd-4ac9-9b0a-cb7808f8bbaf CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f4c54f-ee10-49f1-88fd-0132556b8ee5 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b8ee2c1-c0c4-4b81-bffe-4043121c8c35 CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c596cca-d981-4608-9647-80775fcf0079 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f8aa21a-f719-421b-b09e-9820ea114c00 CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec85562-7152-4d48-aa50-a308c69eaf3e CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dab39ec1-ef04-4929-8fe1-b2db5b6f64c0 CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33c9c32-2ac6-4adb-8d62-8e2206b61d87 CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6871f648-33e1-447a-b3cc-9ad002646517 CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106c1023-7636-48e0-b9cc-503b31b34b60 CLINVAR:1334146 biolink:genetically_associated_with MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad787b65-d4e0-4b25-af1e-ee99d084e1d7 CLINVAR:1334146 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70b2369-4ebf-4ed5-a044-2e5d3cd82cb5 CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ab80644-0635-4a92-9ba1-8b4f1cd5dc85 CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2c8f20-a2eb-428a-8c01-3223bf122b8c CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f86c0d06-d15c-4a11-b0f6-cbb0313eb1c5 CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96c73562-c118-43e6-b7cb-40068b62029f CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fa5d01c-6784-447f-92b6-d42e2435ac0c CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 943b804a-6b42-481b-a8fe-b31e8b6353ed CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 213cb0c7-7a39-41f3-915f-166210ee4c2b CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a743fc0-c037-43a6-a919-6ec678750e9e CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ebe4478-6029-449e-a1fc-e884ed4a5459 CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570c72de-e86a-4286-90ef-1d7d3341609e CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 271029ea-d854-4068-9cea-e39662703ba9 CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5d0cf1-30a4-45c9-bbb4-34097e0713ac CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cc9e2d4-7310-4109-9c68-5c8486b348aa CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02ada52f-dae2-41ab-9ee6-516224161aef CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f7eb76e-7183-4f7a-854c-b6d79e565cd6 CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bfe73e-4f9d-41fc-9e67-5dae13859885 CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98597097-127c-4a32-99cf-267c18c36846 CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cc39a6-1b5d-4daa-8902-6f385a7806ab CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c46755f-235b-43de-b4a7-bed39462ec09 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595dfa7a-d5e4-4a5a-9872-a00930f38d34 CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b9ee1ae-0d40-4ff5-925e-a0c79e12e014 CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873683db-55ed-43f2-9320-94eccf0d9397 CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fc2deb2-3731-475a-8863-3acdff052632 CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd38e9d-b0b7-4922-8c5b-911bdfdded9a CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e07ad674-49d1-494b-a60a-bd868092ed00 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3669d8-1cf1-4046-b02c-6d8bafe03d19 CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 424525b3-87af-44da-8f51-10a7b96f5921 CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8cc97b-720c-4637-95b0-c93c059ef923 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fdf705b-3c94-4581-8ed2-a9d17d994806 CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a340826a-ab7a-48ac-b89b-af4902fd8078 CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da1adbac-8f22-4668-a149-5fe67f6e59b3 CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb6c3e0-c300-494d-b05f-73ae0c88a935 CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eec68347-dc97-4af8-a862-8d1a44406fef CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137963cf-289f-468b-9e19-69e9ae6bfb2c CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02fff5df-1fc8-4e72-8547-498b6fca178a CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9339a3f5-6087-49bc-9d97-e30f14feda47 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed237002-781c-4226-8217-726ff5452a43 CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c00c82-c89a-4228-9101-a105a78ec40a CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 311c5b4d-8e95-4545-8f16-5b05b7d7858e CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 677ed643-85ee-410d-8d9e-18537515d90b CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c139044c-114f-4171-b64a-c36cbe2eb6a4 CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bcaaf5c-ab1a-435c-bc66-3d4a2f1c6df7 CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bd16b91-2071-4b37-ae75-14fc5811babe CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ce7fa5-8580-448b-afcf-3da717b85224 CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5502f3c8-3649-404d-8ac9-d1f0edcbdadc CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6c2ab7-1284-4806-895d-97d441d84e5e CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a167e39-d1d5-4667-adef-140c52324d7a CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc3d254-50ba-4591-8783-4f036fe27146 CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af81eb88-5b7d-4be1-9864-c0906e65a368 CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bcf9c6d-79a7-44bb-9ca9-74f63ccd7526 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cfd1599e-7c48-4d79-aa02-5777c6711504 CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621b0d1f-d3f7-4b05-be4e-f66f61ebff1a CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abe944e2-7432-47ff-86de-7d3008586840 CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9dce0aa-b7ec-4f0d-9541-8712ed1c0af0 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa5a68f8-240f-421b-b9ac-79fca2f26607 CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd09773-f350-4f45-9439-4f7bd34d0e20 CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 254e21d5-eb88-4d0c-ba50-c3e6779f67fa CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da17e58-bac2-4d30-a5f1-b18bc2cca395 CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab820c02-2c58-4f04-9bbe-3c94aa57b2b5 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c3d978-e42a-4ff5-bf62-29675fb793d6 CLINVAR:293715 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd2b16c7-bfd1-44c9-bb50-afbe8ff720e2 CLINVAR:293715 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da0bddb-a488-4012-ac94-590c43202c9b CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd3aff5c-fea9-443e-977e-8d9d58c7fd6c CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a84e97-6612-4702-96db-e3b64e84b93e CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbc71b0c-5ead-42fe-8e0c-4cf3cbcfdf4f CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a120b1b-669b-4da3-b7c9-7d9ca63802ee CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffc0dd84-0d09-4e7f-bb61-7f07097b0ab4 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869fac93-33dd-429a-9d47-69b99caab6e7 CLINVAR:1342955 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4249d3f2-c95e-4866-9221-7b3aa54e0246 CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b14cd1d-4efe-4d72-b570-869b650bcb61 CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 802bff3c-49d5-4acf-9a6c-0efb0114bb53 CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a2ed54-4566-4bac-ac10-ceeac29d5651 CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f3107d7-0cf8-4103-afc7-380775ea7572 CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b13710-7d6f-4a0c-bcd7-4db7fdcab2c1 CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9db7c098-b8c8-4c8c-bfe2-46fbcba21c35 CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f203cc-b192-42c6-9efc-3052a00db847 CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fe63e50-0273-410a-8f46-825f5af7809b CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9deb2707-4281-4ac5-9a85-4c0e18d138ee CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5167ed0e-cc20-4c0b-abe0-eea56daa765a CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133e4c3c-40bc-4f1a-9630-3edb68375c8b CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f783a0ce-303d-4de8-a21b-0e8da79e80a3 CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d706c848-e98a-4aee-82d7-4a63989deb81 CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1aa1f611-8fe0-41b7-a292-441f1fddae02 CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996aeeaa-efbb-4a01-a6b8-53871e468408 CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df6bb0df-5a0c-4b67-ba61-393c65e757f8 CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57294f6d-2f94-4fcb-8bcb-fa456e8a4021 CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9f8800a-f67a-4e8b-abb3-95825304f64d CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff998c7e-eef6-448d-8bc3-7ec7701490d3 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6f847a3-7286-4b9b-89c8-68926336be32 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c6788b-e4ab-4b41-9490-f696f6fe68d8 CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b308a84-72a7-4c12-bd16-35fa9f5529e3 CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579a3bd1-8616-40ec-bac6-a9f8572e438b CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bba0f1a-60b9-40a2-9bef-fd15b530e881 CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456980d7-63a5-4eff-bc62-084c7ac5a0b2 CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b222bb1e-1a09-44e4-965f-5bebc7fc85e0 CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c1b84f-8e80-4b32-8239-effd76e3e46c CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a18a778-7f1e-42b0-8cb5-ecd6e2147190 CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c59684b-1063-4cf5-a110-eeaa7288a130 CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70a09135-c99b-45d9-aa32-b3b25608c7b4 CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505e5666-fa7c-4532-8103-13de55b77ccd CLINVAR:1342195 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 561a95ca-5239-4dee-b441-90b4c30bec4a CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f117e33-3f30-4e41-9f2e-9fc5c55dc39a CLINVAR:1342208 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e53372e-b33f-4f49-ac1f-6fa9e357937e CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a1b1a96-a385-47a6-a80c-41143d85118a CLINVAR:1342209 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99b6fc56-6c1b-439f-a9bf-65cad046fd71 CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521a0d7b-503e-47db-9adf-5e8be6ee261e CLINVAR:7959 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1d85cf2-a98d-41b2-852e-83e2b47a9ef3 CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a672b9f0-d17c-4548-8d4e-633a0879f393 CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d581ec1-fa0d-4e81-8fcd-9f2feadf6f04 CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e860731-c0b6-4e16-9f71-c64a2355f999 CLINVAR:1342196 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f01fe6f4-7b22-4929-bd6b-7b7d579f6fcd CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8303d6-f89e-4def-bd64-7e8370929879 CLINVAR:7960 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29acd959-5ead-454f-bdd2-a006e7d8bfa9 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94603c34-d71e-4db4-92ee-bcc55488e2a0 CLINVAR:1342197 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 712da2d9-6e6a-4aae-9e2d-3451799c97af CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcead51f-7abf-417e-9d08-caefa5890d70 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f01086c1-0ca2-4ff5-99de-d0acfe5a8f2d CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9a5bf1-9e44-47d9-8bf7-2296935b2a3b CLINVAR:1342199 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c616b30-ee13-4b34-b8d3-ea4289bfd25c CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a93381c6-01d6-4607-b3ae-23e91feb8577 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cbfba78-66db-41b8-993c-d03d45be3bad CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec879a69-34e5-46c1-9b98-0136fb909378 CLINVAR:7947 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b520a42f-aacb-457f-9a08-a9ca4835c919 CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17bb55da-dd5b-4835-b6f4-595b78cbe6a1 CLINVAR:1342201 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 556026b1-ae38-48a0-9af9-2a157a501e64 CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4923fa1a-49f3-41cd-84bc-9ad2e5d4cad7 CLINVAR:1342202 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6bfee5f0-13be-45d9-9a47-e218a7ac8871 CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0ea70b-c83a-49eb-b3c5-ce1fbb83b402 CLINVAR:1342203 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6262568-40b8-4212-bd29-85b0a319d3b9 CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d205da0d-6e01-4aed-bc1f-a75c81388be5 CLINVAR:1342204 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1c2a5a8-c7b6-473c-9154-4ff3f6427366 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde14100-5985-4792-9e0a-56f94cf63d71 CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a28c591-9fe0-44e3-b5a4-48c7e80e55a0 CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5d91da-a116-45dd-a434-d0c522619bde CLINVAR:1342206 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4be45841-acb6-494b-bcb6-6e3a453fcb86 CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3ec160-7f69-4773-98d7-9ded791b0914 CLINVAR:1342207 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8874de68-e716-498b-9396-9e7f0c150c4a CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a737f1-866d-4f65-b80c-859914852022 CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9524c35-f737-49dd-a3fa-d413df0b8a12 CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe147a85-ebcf-4b60-99d3-6dc3cfe1e56b CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5df4abf5-1493-4280-b452-53e23c1e6460 CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9483a725-cbf2-4b33-8c39-0db48f5bea70 CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f49ddc4b-d2a9-467c-b2dd-04c0d98bdf23 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b03801e-847c-46a9-99ad-32a52f76329e CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35c3474c-e9b3-4194-aac0-c66ed4e8d94a CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930de291-52ac-4999-ac4c-addc548407f1 CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d8fac7d-c155-4d9c-a9e7-23c3eb26bcf2 CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7eaa4e-c942-4add-913b-8e04d2011d6d CLINVAR:558634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67edaffe-0d3e-485d-af61-5538759eab38 CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547cd5bc-e67a-4d34-b3b6-f4848afb103f CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87892f3f-0047-4631-8604-d7ac9b4aa1b3 CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d978c70-2d00-41a1-bbc4-9b3d5d0757cf CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c556a1bc-d65b-4c7e-8e43-6b954fdee93d CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea9ea90-25da-4167-8419-7138ec63f84f CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd45e6bc-edc9-40fd-83a7-c0152a5cd8b9 CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e94bc0-5df1-46a5-884f-aff488ef9b0a CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0a966e0-7404-4cb7-ae36-a85730f2e7ba CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eba8f15-ebad-4093-a222-dddef1b92e0e CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c05cd797-45ec-4a1c-94b5-31f85466f18f CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccb4d69-d551-4a9f-a344-2ec336af9526 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de50375d-ae37-4725-a6d2-d060d93c5c5b CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea7b82d-515e-4131-976d-96924f7a43be CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85eced92-be65-40ce-8aa6-795cb7c769b6 CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be780e8-f392-4efd-b816-e349cbc3e905 CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6be51be0-1e67-4fe7-bd79-967e8fc549c8 CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74aa7aec-0441-45d0-b69f-e7e37c195d79 CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb06412d-340f-4194-b2e6-f8a605121713 CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd423da-902d-4703-9a42-d14137d8ce8e CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea505168-a7f2-49a3-bac5-cdb9563e3ba8 CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c562fd-5527-4b01-9a3a-37e94154e3d1 CLINVAR:631580 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ea63971-77e3-4835-ba95-5c197c2b4c1b CLINVAR:631580 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1725ab69-e39c-496c-88ef-d0bd5542766d CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 377d7a03-2622-471d-947a-155195ef3619 CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c267a2d3-6239-41b0-9a7d-d7cc3eee3f00 CLINVAR:1342968 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d4af49a-2015-4a16-9c8f-2836dff8ff29 CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c533e853-fdb2-4d3a-8862-b64e27cf0657 CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99f7a0a7-bb16-4ddc-a6b7-de2f793d5ead CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 744435c6-f06d-4eb1-b9bf-4ca74cce8324 CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba3beb90-dd42-4d45-8b93-7574a2db82bf CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d7c8296-cc1e-40c0-9a46-b9a6df32783c CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33c6cc1f-7e86-44a4-a472-93698fd3bcbe CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dffed20a-0d7b-4e46-808d-eafdd5a28885 CLINVAR:7949 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e86dfc98-e9e0-408a-bd94-c7f3553cdb3c CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a72f509-946a-40da-bdee-75e71854fe61 CLINVAR:7948 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e66922c5-0fce-4a21-8bff-c7c7ef84f565 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a21236-32df-40fc-8d0f-89382e79fad2 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7cc3cfe-1a65-4549-a685-eae6de0abaee CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e174bd2-1ed4-4121-bab9-22f3ab501e91 CLINVAR:1342964 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c384ea9-50bc-451f-b198-3e9d4bfc080e CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 214e468e-0b45-44c7-ad75-0b3932130ebc CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 831c7158-6711-4ba1-a279-734a76fa3fc2 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c19ed6-0eaf-4b57-9ae9-d837fa36a7ee CLINVAR:1342966 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07292eee-1e7f-4636-aef9-6f9838c9327e CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef84e2c-3706-48c8-859b-3f69993d8d13 CLINVAR:7946 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcccc3a3-8c60-42d9-bd47-89399537352a CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a85a550-916b-4951-9dad-b1578ab501b6 CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 487de5e5-aaad-47bf-a4f7-aed87e34d046 CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef35af5-0578-431a-9c82-e71460a0259c CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1523f82d-e872-4add-b361-93ef1fc1455f CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a163ca-5e3e-44ec-aebc-5a2944ce8279 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abb1dca1-f273-41d9-ac22-ef3585d60b95 CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac662cc9-d1b4-4587-9a3d-c1e409a55582 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a41315a-86e8-4c3b-81d7-301dfdb4c27a CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc633150-c30f-4fd7-9dc6-32fa6c394db7 CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c21017dc-73e4-4931-9d61-1bbf2215b405 CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821740ed-1d5f-4cfe-a00d-26a6645c7f06 CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d22aa2b8-8f59-4d5b-a6c8-ffd075997fb1 CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aec71a9-e986-4f70-93ca-516995059a65 CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07a10c11-33b3-4fae-b64c-4868db208cd2 CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2490b34c-e4e5-4ba7-a048-6f8242dbac5b CLINVAR:141522 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7954dbf6-cef0-4610-af96-41462dba7333 CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3129ea0f-a317-4e52-bb29-40971841adf8 CLINVAR:453341 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea0cb8f1-1df4-4e44-94da-a3a1ae156015 CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ef01ae-eb66-401f-8b2a-8003399d9310 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44ad8e5e-e82c-401c-8369-7f3df22e4683 CLINVAR:583716 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6034edee-0a9c-4038-846f-88e2a2b46be7 CLINVAR:453461 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bccd04b-b465-4d84-9180-2d8331f04e0f CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06ba613-fd9d-442f-82eb-77b73e1e6bbb CLINVAR:231535 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76f9c282-e33f-46a7-8541-7cd3adec4470 CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51b631f-dcba-4724-95ef-f91afabc992a CLINVAR:3018 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 248dffa2-cc54-428f-81e3-ef266e95aced CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e00941-245f-4c1a-ac7a-6be2ed9c914c CLINVAR:3033 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c229b0b-37d8-47da-8e69-491e01e6ad2e CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e611e52-b1e0-42af-aeef-6a323ac24254 CLINVAR:818362 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3490a979-e38b-4c10-a059-7566313602ec CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ac0a43-3f23-4960-8131-8998a125ab9e CLINVAR:140818 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b11df37-9442-4a8b-aaf1-85c14d75095f CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8bc142b-ef67-4fd5-bc1e-4345d6e290e7 CLINVAR:407718 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5e0137f-73c6-408f-9633-984e223876c0 CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fcb90a8-e9e9-4239-ae74-d6bb440e9616 CLINVAR:929198 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0341e07-438d-4f40-99e0-ec440ac89ccc CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cef6343-bef2-4069-8a71-e65fa3df6354 CLINVAR:220555 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c555dc2-c797-47c4-9883-f274123c7f05 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd66b2b-08a3-4010-a5ee-b992442742b8 CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1ee6e59-88f5-41ac-a2f2-15a310c94665 CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23b9bf9-3e30-4045-bd14-3a717cc80cce CLINVAR:231842 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a37450d6-27ad-41fa-8e2d-85a89282395e CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990e0dc1-a386-4947-827c-720432527f84 CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73252e13-5859-46f1-9102-6d62c339070d CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29fdbb8e-7272-47a5-a491-6a5301502b89 CLINVAR:3023 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bd036c2-e966-418d-9a98-904bfa512aa1 CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f1cb37-e101-45a9-a07d-3bfe56713187 CLINVAR:133641 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 044a291b-c9f9-47ef-bbda-b53cebd9afb0 CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3454269-c49b-448c-b096-2897bafa29c1 CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00657b38-17ad-418f-acb7-729c11180a17 CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de44e7d4-c8de-4fd1-be2c-29acbfec2001 CLINVAR:187275 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef9cab4d-70d8-47fa-a170-4c563a31ccf6 CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50d4749-9425-43bf-8e61-e8f4c3f217d3 CLINVAR:141289 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 376c5515-846f-4b26-9f0d-7e58817c977b CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f20e0b-794e-4229-a682-bd3e3890a0b0 CLINVAR:3029 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a416629-8b91-426b-ad45-c844fb5ccf84 CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42289567-5d38-4b7d-be32-e83f93504ad4 CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ae7ab64-becf-479b-b9b0-1ee369e0dc6e CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98aa5e5c-0122-4375-9c79-ea891773f3d5 CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c82f90ce-6764-4d50-b245-d89a8905e5b3 CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bdc7af8-f878-4019-97ba-0187bf34cd79 CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 770de0fd-461d-4a6b-8e4d-d65b1f52c425 CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac9dc5d-3ebc-4ac2-8682-45e89763eb61 CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21e8c75d-9e82-4d62-ab2b-becb86b1eb3c CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ddb9a5-e18a-4f96-93c9-68f77c1dfb66 CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a055998b-f6bd-4be2-ad7e-5cebf44fa87a CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84509340-ba1d-4260-89c0-396eb589c6f2 CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 313ad281-57ca-4e32-b8d2-372bf1e625c6 CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f11eb2-8d0a-4aa1-ab82-d23527bfaf64 CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad4a0929-57ee-4c01-ad74-f95c72c55705 CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a500b621-4bf5-44b9-8dcb-cd89bbf60de0 CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a925f80c-7add-441a-9bb1-f472e4dddd26 CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7601e3a9-0e82-4b4d-be84-15a5bdf28190 CA16020852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39d0c217-6038-439b-8011-d5c86a32c913 CA16020852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c19b722-690a-481f-93e5-54a78bc4b7fb CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecf69867-a06b-4de1-a712-6f09dd8ca9c6 CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a983ad-30c4-4a1b-b391-e9743fd5a341 CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b01d908-7e58-408f-9e50-bba47e6a0b82 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800b10d2-bccf-476a-8907-9fe44ce888b6 CLINVAR:453367 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c2a76a6-df57-4fac-b1d5-bd77598fefca CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e26922-a59e-406a-b510-88526a9d8e6a CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc1c5b67-44ef-4094-9cbf-e23e91db2749 CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095f9f10-f3ba-4da9-8f2c-dd00bf9a596d CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91c7e5ec-0560-463e-9b91-f8e16bd07907 CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 768137be-b205-460b-a663-dba6a30a347e CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97130998-95d3-4d26-8cfe-d1de8823bd86 CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8e07a1-56f2-4340-99cf-770bb997249a CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a526744b-0449-4545-9c77-3c90a90633d5 CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eccc6ef-f824-4706-9f14-03d14ac4ebda CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1f675b1-5b98-414b-915f-ac25463ed73e CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45a9f83-c6c9-48db-9b25-98e5ca68a049 CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c08a5b9-02ea-4243-99da-49d4cadccde6 CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659e88f4-74e8-41c1-806c-78917cfe6af1 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf6d1762-a8a6-48e9-a3c8-bc7d929189c2 CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0062df6-9d78-48f5-9a03-2454319f3b54 CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e98c6a7-581b-4d64-baca-17f8d3d25ec5 CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f81b726-0403-49c5-9006-108eea032492 CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd96fb34-933e-43e2-96dc-9f8c31aa15ed CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd0352b-0262-4834-8f0c-e6b5be02cd70 CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f29c16e6-96d7-4b06-a08f-b3b15fbe928a CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a477025-a7c9-43a6-b5c0-9d5a0c484d55 CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f428cc3-080b-4df2-965d-63c12c0ed1da CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ff4e23-a689-4a42-9900-a05e5c1b143f CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd469601-f800-4c14-94bc-1e731942615f CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6bd3031-921c-4223-90af-27a7ba22c5dd CA386952326 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98a23174-e67b-467e-9510-d28625c46cf9 CA386952326 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62a0599-17c7-47a2-bd20-d773c61df8b2 CLINVAR:307455 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89b96f0b-3144-4d48-ae09-56c6da1f442d CLINVAR:307455 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f1d8c4-c1bc-4b11-bba9-038c8eaa112b CA386952398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c67d4c67-9a79-4013-b599-7e0e7cc95711 CA386952398 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1489bae5-7cf1-4b05-9779-57c9242dc016 CA386952410 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fedbef7c-c8a9-44aa-a365-dd1472d49fde CA386952410 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecca721-e14a-420f-bf8c-1d1f3679f05d CA386952411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5edd76d-80af-4378-aa19-cc1bf4337c5f CA386952411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf06c68-a562-4da5-af38-31c8d0897f0a CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2143686-4772-4b58-84c6-15cb2b9d4393 CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdcb299f-0782-45fb-b33e-ddd03adf97b2 CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 392660ec-acf3-44cc-b344-641f89042481 CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8b933c-0138-49f4-8d01-52a5f85e8a75 CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8711b73e-c680-4ca5-a9b4-3c6272e3dee2 CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen debc039e-77e3-4828-b7cd-0b10538e1645 CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ece66f6d-2230-4c2c-8709-84936af569f2 CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 239f2e7b-4b5b-477f-9f78-a5affd6fa7fa CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94dcea34-1d93-4421-86fa-08fd8076e60a CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47204c9-b6d0-4f2a-a807-5e43719d6b9d CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c46d91c-451b-4e1c-8220-e2377695d543 CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4ab894-9ed9-4444-8df8-bf21f1232b84 CA386952412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fedec3d2-dde1-4943-bfb4-bb58a75d4f0a CA386952412 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b6c709-9613-474a-aef1-8d5cf426d632 CA386952415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c070c743-b24f-4ca9-b223-5c5a6ca45a5b CA386952415 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f69933-9b88-426d-9fc8-b3d6d5480acb CA386952464 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ccaac7f-5e23-4b7a-8fe3-aff666b705d1 CA386952464 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f104e31f-730e-4ec9-81e9-90b90f0ce40b CLINVAR:307456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbde1462-e6d9-478a-a857-82d6eace97b6 CLINVAR:307456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dbc9390-0449-4514-8095-fbd6a88044ea CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94a06699-ff3b-4357-bdbb-5fb5ae94c757 CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af502fa1-69e2-4b8c-832f-427769b8eb1d CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fcfa462-af7f-4c19-bfbf-c8076b16af95 CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d167a6b8-6d9a-4318-901d-2df4d3f23a17 CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e09d6f6-bd16-4b1d-a801-e990e15ebde3 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 266ba93e-c0a4-4d87-9197-9d0a5fce94cf CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9815bde1-65ae-4cfb-80ae-8d97d2ff6024 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca625e0-a07c-4d06-b794-95c530c4db91 CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3c466b7-e755-43f9-a99f-4a81aea5579f CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c45b359-3886-459b-8235-440894c32a06 CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a6f52b1-3c03-4528-91d3-1a04e2a9d4d9 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3438f928-8e1f-4b6b-8822-eb601230530e CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c371f8e-3d66-4d7f-a5b6-1b1381fcfd8f CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42d4bf3-b4a1-468c-8e1a-41c21e85cefa CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cbc4c59-7e57-49b6-9e13-b0c86f9ec075 CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765eb060-5ffd-411a-a4f7-0de6e8519936 CA386952499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5503649-8514-4837-baaf-af6b61a22fb1 CA386952499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 997b1ca7-cf6e-4a17-9982-c5b791bc4405 CA386952505 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe2bc501-42a9-4de2-992c-08f76460f56b CA386952505 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0329324b-0a50-4767-9731-392c8bd8eb29 CA386952516 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd8a1018-d30b-4852-a48f-e21078211740 CA386952516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbaacb2-e6ed-4136-b6c3-3132d404330c CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0b800a5-1752-4611-95b5-ace9272edf1b CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f287117c-9e07-4a05-b066-5df61cf7ad3e CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c39299c-5a05-45da-8a89-d4f51c4dfcd7 CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686b4322-6962-4384-a1f3-1231b886bf14 CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf4649c4-e526-4aad-97eb-4c8d147942a9 CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402e0382-728e-4754-8a2b-caa4b7cd336b CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81a315c2-6725-4140-bf08-368119ab4b06 CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4598472d-0b7b-42a0-b4d9-bbd1fe81c9d2 CA386952675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9627cfff-31ae-4dd3-8cb0-a4c226a5282a CA386952675 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80423789-afe5-4e3a-b1f6-f019bc776593 CA386952705 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09ed6ad9-ff4b-4570-9fa2-d7ffbea4ffe2 CA386952705 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44143eb5-6c76-4b84-a186-0395a05aba19 CA386952722 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34cce24e-b06c-47d3-9c54-961d69c57e32 CA386952722 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1edf294-b3ea-4ef5-bf93-10aa7b1efee9 CA386952724 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e07528b-711d-4667-8e2a-82670caf86c3 CA386952724 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51bccf7b-09ef-4ab8-b7af-c93e67cc06d8 CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0e5e701-1ac9-46ef-8d08-3a5381651621 CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79dd52ee-f9f8-41a7-ab4e-b382d85e48f1 CA244520729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fffe7800-d514-4e45-ac76-c91ec91bf823 CA244520729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d04b6a0-1e47-4c4e-9735-f3aac472b0d9 CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 998d130e-3530-4ed5-b3f4-d508d9fdcb1f CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b87790d-19a4-4e7f-bb94-2836a69102be CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74ec1f27-aa23-45c2-9f54-0b8ddc686d7d CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97bf9500-e4d5-4a88-a5dd-debf291226bb CA386953128 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1872907f-36a9-42e2-ade5-53ee7c9efff7 CA386953128 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a6a9b0-62b9-4ae4-aaf6-e4cbe6a83351 CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8ad8577-a0b1-4258-b72d-c5f724428888 CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c7ba9d-84bb-4a72-ab54-dd1d8748e443 CA386953149 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c7c3857-b115-4dd6-b611-aca6c0595e76 CA386953149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f611a3d1-186b-4963-b858-3e3bfc834fbd CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81c946bd-208f-4f85-8d56-6a9a18aeb312 CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca5b0be-174f-4a6b-9e75-52ae97272652 CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e01e8aff-ca21-4126-aa00-e0dffda18c56 CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb26416d-8cbe-4de9-8801-8491db25f50a CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b2b3028-7ba2-41a0-8dce-d85b7e16d021 CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e369a71-4945-47cc-9d4a-1c1a1f8e28a0 CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 247fde66-966d-4b6c-900b-cc3acd16baf9 CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd63f316-757e-4d4a-8408-723ae7ada5f0 CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a001c86-ad94-49c9-aabd-d4a1d33a19e3 CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5d066c-a254-493b-9fc8-40cac33ac92d CA386953604 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78e98a9f-3975-4116-acbe-3de955541073 CA386953604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5adcf583-6388-4c75-b5c1-3900794c3e3d CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b252c8e-21e3-4624-97c3-ac491534fb0b CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d7f4eef-fbca-48bf-b7d2-666c5bc28c69 CA6831684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5478e887-12c3-4164-bca8-06e1faadd220 CA6831684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf0b48f-aa4f-40be-9ed1-8e13e2e483c9 CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5505a865-b6b7-4a69-b361-2593c1f5c508 CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede14a1f-98c7-4a79-83ba-74742492156f CA244520882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fb3da68-a8e9-436d-92c2-0ba48c4e73a2 CA244520882 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4853ddb3-941a-41dc-808a-60a2edf23721 CA386953772 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dd385a9-8d8f-45c2-b792-b10df16e5647 CA386953772 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89ec09a-5e2d-4e52-9708-b0c7cc8040af CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0da49264-3b1a-4c61-a57d-dcfaed6a8db1 CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9e5dfd-f8ed-4553-b427-02e065313aae CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85178a79-f9c6-499b-94a7-e1153d52bcfc CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530dc0e0-abd9-4f99-af50-7b05192486d1 CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0bd6d71-07cd-4d94-9b6b-a66d351c0c6f CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68af9f6e-f06d-42ba-97cb-4def3d24eb7b CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d4bdefd-d4db-49ac-9a33-8000ca91925b CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ceda5f1-80a1-4ade-9e9a-ad886aec0241 CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04e9d957-d357-4355-b7e7-c0d49485046b CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902db9bc-16aa-41ef-9b53-427cec47ce19 CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfa4a2b5-4940-4d34-8eee-f27d7edbe5d9 CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc981979-161c-410e-a951-0005300ec1ba CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12d3b436-fc89-4fca-90dc-189bc6cc6a69 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a317a3-a9cf-4887-9185-43f0d355ba3c CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca044056-0cda-4323-8034-bfe2b2ff057e CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001658cd-6bd8-4130-89b0-bee94f33dc4f CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 908be1ce-aec2-47ed-88e8-7710a4692902 CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d717e4-9466-4402-9911-31937b53a838 CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 653ce97c-3b63-453b-9969-dcd74f03d62a CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9408791-0cf3-48c0-8280-f8edffd2a7a4 CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d30f0c2-bcf6-499b-b7c5-b088c06848e6 CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d025b47-1188-4a0a-9942-6ef4a48c6b5d CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 923f6155-8d98-486d-807f-12b6e507a714 CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02500987-4589-45eb-8d03-abf4e93048b3 CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68658800-b7a8-40a4-a4f3-369ed299f529 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c37000-2293-45a8-b3ee-896e76248dfe CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42ef4fd7-c7ec-4706-ae4c-9fda871bbdbf CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8a1fe6-c67f-42ff-b940-6ee0812d086c CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b966ad0-83c4-4e90-83cd-c7d61f6263c7 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dde0da5-ab27-45d5-8158-a8419a87174c CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6d509c7-2d3e-4f1c-834d-c49a2700392e CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603be3c4-20b4-4262-b740-734654446613 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca499e5b-f3a0-45d4-a5ac-09c3f9caa93d CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4f8e73-0848-4197-ba15-a2b4e03c55ea CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b904d261-9bae-450f-9f04-10082c547455 CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab715447-d7e1-4419-a7c9-038c0b86f151 CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46a2d584-5731-4c98-abb5-8e9b44e91d40 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da99944-d121-42e4-bd9c-01214b385fe3 CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3d229d8-5817-4dca-8037-e257ea165095 CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb605e9-e0da-4b4b-8b16-26cac7d4b1f9 CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fed934c-9400-49f5-911b-f3da544e1131 CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcb1431-45a6-4a22-a462-6259d7bb2081 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e03e8308-4313-4028-a8c5-e8950205c9ed CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fce8d95-b1c7-4954-83f1-6aa2419a3b68 CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d99d2f9-281b-4d7b-a70e-d310d84cb523 CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da5f40b-bf80-440a-b95a-7d1837210352 CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c0b1343-2214-4042-984d-622359707933 CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd01b51-cd16-4fd3-aebb-1fddf28a77a9 CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccce2e5a-ee3b-4877-a806-dbcff8c51e9f CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5151df5-3c6e-4334-817f-2149e6d9e28d CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77a07d8b-c75a-48bb-8b95-01cd0b16a8ab CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ecf1c46-deac-420d-be1c-2d66ca61bd83 CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 173fe4c1-fa16-4047-957c-35025934db9f CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5897c9b-55f3-4c71-99f1-a9bd6c6f0f7a CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 648f0310-5ee1-467e-973a-081ab15d9a24 CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ac4111-3d21-4156-b1bd-4f6e65eef576 CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbd213d5-9b0d-4960-8175-35dc37bf7285 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff57f32-fab0-47ef-9e73-3b0a8c98a3d0 CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59a975da-cc5c-4938-8f17-ffbdc2df4105 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0981412-cf25-4cb8-9f74-3f78d7832822 CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83ecc731-a968-4727-892c-58c135bd931c CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6e1d62-31da-482b-98e2-05daf8771cf0 CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71514a6c-9171-4a10-a91a-40b9ade6fd26 CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584e02d3-bf28-40eb-8163-63f99a8a5980 CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33353dcb-b71c-4ba9-ba82-c14eb5fcbe15 CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043fff8c-9d5b-401f-adc0-cb6b4fdf5ad1 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 876d200a-f4b3-47ad-8a00-8a064391d243 CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6502cbdc-e3b7-470e-ae27-32a07e877463 CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0b9a064-0786-4dca-9679-32b416056392 CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af99380c-05e0-4d38-b6a8-b76e6129c3b9 CA386954172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10690954-9b59-4e0e-9c3e-f6d49fe89b0d CA386954172 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c95ff0-c1aa-48f8-be48-991ce66220d8 CLINVAR:36816 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdff691b-0657-4d16-aba8-09b0e958ab17 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbb50548-3787-48fa-9dfc-e459d47c5902 CA2573051039 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcab5fc0-6450-49e7-9818-3575d9777571 CA2573051039 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace1d532-5513-4e82-88ee-6ea98fc22665 CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30827a2b-361f-4056-b041-a868e8ae1d61 CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be22d0e1-ff13-4b15-9a55-606d7c4175cc CA386954942 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95501a1f-76a5-4e43-8441-5436c59eaf6d CA386954942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2e7ed18-d675-4015-b8e1-2bdf019a98bf CLINVAR:447486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7855d926-24ed-4c18-bf16-f5de70fa1a5e CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6407b180-4a8d-463f-9eaf-aed9b994004e CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25234a87-5ddc-4ec9-8054-f02aaeab3a29 CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1361fd-c1fb-42a0-89ef-bc54900eb86f CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d101d7d-8e40-4d56-b4da-b9116a27b063 CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fdf83e3-a27c-469b-93da-df155701c288 CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dedf6b74-0720-4c24-b161-94ad6b175fb2 CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5503c8-5760-496c-9d4e-7a0371b2432f CA386953852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b613dce-4aaa-485f-83b3-372c97258243 CA386953852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce73781-406a-4e29-90c0-72f222754a2d CA386953857 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f01ebd8b-d914-4d52-9b09-de9d15f5631e CA386953857 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb6701a-47b5-4133-8c41-ba5c5a3c4ba7 CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a2738c8-29f5-4ca3-b526-a0bd66988271 CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b20d15-60e8-4f77-b7a1-ce279eb1e892 CA386959120 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b730c92-8844-4376-b836-a0c1acdf89e9 CA386959120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd2fef0-a142-4afb-981a-5fa4ea221066 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba23e138-39d5-4b14-a4e4-0b9ff7e3d3d8 CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1717cff-8540-4c1e-8358-e4f52fde1b61 CA386959975 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3ee1bb5-96ab-40d2-9cb7-5dfa68a5af06 CA386959975 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1ae749-2ad2-4392-a37f-0cccfc2a5971 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52d9dcf8-dd28-47b4-b9b7-2065670b9e24 CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0bda62-6cce-4e86-9c41-d678e645b432 CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41238631-74ca-484c-8f64-f784f8bd6261 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0222bcda-9958-4aee-b01c-b72f2a5291fd CA386960405 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bd08630-8a35-4ec1-b9e6-49fb56abda64 CA386960405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030d3e97-edc1-4f3d-b75f-043be6ddbdb1 CLINVAR:447490 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c984b1ae-df37-4bc3-9432-083a325d1038 CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2156c35-c04b-4c3c-9850-a4b1f0b7bbd2 CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2520b9c4-dae2-4a99-a6ba-c39f17e047e6 CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c029ac-9fa8-4803-ac29-8bb3cd36d9cb CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06ab98b4-b37b-438a-ae28-8c18579ad05e CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5170445e-8190-42c0-99eb-12faf88cd055 CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8873dd6c-6e82-4970-9fe9-8e90ca08236b CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df7a557-ada6-431e-bf59-1196a9e29806 CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0005720e-b7c0-41c6-bc93-b2ced0135d6f CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d31f0f2-54a2-4980-b71b-18c1e53d2b62 CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68184006-4b25-474c-ab12-fc639c17e398 CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964f6740-d12d-4fb3-8496-230a8486952c CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07f878ec-bb0f-4191-bdc3-c54d580f8186 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f6bd0f-06b7-4e94-b152-27cf77cfddaf CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 359da91e-787e-45ab-b1fc-32a436471c68 CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0417506a-bb9c-40aa-9697-a76689a2a57d CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b826baee-cfca-4a95-a933-b98d665db2af CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57fe6b58-0c6f-4114-9b8c-1913fdccca2f CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6b178c5-f21c-4324-9c8c-e6d0d2693265 CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02ff3378-a61b-43ae-87f5-0f80f868b27b CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ad80fb6-970d-47cc-9356-eb3e1c1a1e41 CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d012017-feb0-4240-9eff-88b7965a313f CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a401a14-2534-49e2-99e1-332305e389bf CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e4c1dc-47fd-44d5-bdd7-72f146f16273 CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56d0022d-1af8-467d-a878-20bd252af94f CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36dd248a-c73b-4127-8839-d93243abb777 CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 832446e8-591c-4e44-a0e3-0ccf510ea737 CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f00892e-6524-441c-9626-23b6f10c7024 CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4412e8b4-daf0-4e42-a7a2-9ac435d7dcdf CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e54de1-885b-452f-8d1d-89311ce1ff30 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 020abe4d-1f1d-4633-b23a-692f22ab15e1 CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7001f98-85b4-44e4-95f9-21e13901e797 CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c523792-a483-45f6-8353-ddcbcd1c5d0a CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1b1606-9b82-4811-92e3-cc472b9bdb70 CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 038b0ad0-d241-4a0d-8010-6bfc2c53f55d CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d8d107-10ae-4f5c-aeba-56694d65103c CA386965461 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f3636e5-5d64-43d8-95d3-8557640e41f4 CA386965461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45bae2fb-3c4b-47c0-a50b-0084ab0be0e7 CA915940299 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecf2390f-426b-4a7a-93d8-73b0c2a5cf4c CA915940299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf6bbf7-caff-4d88-be30-ce0199f7f4b0 CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0257c47b-8d11-43e6-a402-83f9300d1170 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a38133-f801-4107-a42c-e9775b72405f CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07f1482a-0937-439e-9c02-e979afba1d23 CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0ae110-6164-4dbc-9fea-14e3da35dca9 CA386965838 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0abf17b-0ba9-47cf-a893-a4c9a8ab55e3 CA386965838 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc1e937-c2c8-4034-8aa2-48e6acd1eb0e CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5153382-cebd-45b4-84ef-2f1015f08c86 CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a62ac3a-4695-476e-a3e8-2c236dd6f6d0 CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a95aa092-a09c-4d79-a7e8-c996d6c466a7 CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf3cc29-1fbd-4fdf-8236-033b78c40076 CLINVAR:1676714 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ef1da3e-8571-4c2a-98ef-d7e007beca18 CLINVAR:1676714 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990de175-2900-432f-a685-d67780afc962 CA386965841 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6dbf3f2-bf50-417f-bd86-4d56940fea7b CA386965841 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1a99ba-1c67-42c8-908d-7833da80ccff CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0aa787c5-1dcf-4657-860b-fb7d46c3ac5a CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9b5b7b-7cfd-43b2-8b41-5e34faf5fa23 CA386965901 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ce83dbd-c1f4-4f8f-8325-6284933af30a CA386965901 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b1d7367-6189-42e8-aa37-d9b2c9c21e49 CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afdec7ad-f7c7-4346-934a-a2bfca57f8aa CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ba38ce-5190-4bda-932a-7f2239f43d3f CA386965984 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8c8c5ee-b4f4-4d93-aacd-d01e1d93d262 CA386965984 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f835b4a-e2af-4e6a-add0-bd16b8ddef38 CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ec5d6fd-9d19-4ff7-9441-11302a7ecb8e CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c387763-7536-4151-8c88-f07665054876 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d2ed16e-24e5-4025-ab64-0e0575d8610d CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18aefeb2-03bc-4286-9618-ecef5720862c CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ab6debe-1912-4051-91ac-ffc449a9ef4d CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83be9a19-21a7-4cbe-9d92-d6b561c59b7a CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b81178ea-f527-4a1e-8080-e3fb7c2db57d CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c66c4a-af21-4e75-854c-c4a592e04eca CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2761a93c-740a-436c-bf12-98af93752c96 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4f8735-8e8f-48c9-a3b2-4d1f78029b29 CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c112606b-0b7a-4fd7-89f0-e5e520d043f0 CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dad3c1a-65c7-476a-ae8e-578008f1f0e5 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9dcf152-0f71-4439-8f5e-1bd4ec537edf CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d6c986-a57c-4252-a03f-6f18f2f9dedb CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 496f63d6-cd1c-4b86-82bb-e84969b1e679 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9404c05f-af75-4129-af08-8ed098f62e49 CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bf2ab8c-94c9-4c70-a4df-b005cbb5a380 CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef93de5-428c-4eb6-a200-c3001fc74f3f CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc3e04d0-fa20-4189-9542-40ea8fe51e50 CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc96a84d-8e42-4bc4-8382-7a7186e74aa5 CA6831851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3cd797a-fbba-473d-8d30-690313915fdf CA6831851 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df146f3-c1c4-41fb-b582-c900bdfc6f60 CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0947817-bf84-4036-bbed-c4445881a71a CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae580674-ce91-4003-bb2a-c8e2e9e5aada CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 392d1561-75e9-4b79-ab93-a7b4339f9714 CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65df8aea-e3ac-4354-b170-76b6a3cefe3d CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 843fc765-1aa5-4160-9b17-a72fc4161b3c CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e79493b-3684-4bde-813b-cee857f90e9f CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 313becbf-8f0a-47f1-9659-a9556e4bc2ed CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b57ff71-0088-4e3e-9cfc-32b1b071795d CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83bfbb36-70ac-4fef-8003-f7fb4b961eab CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 199f6ffa-5421-4d2f-93bb-f2a2a2b8b784 CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13ddff1d-7e41-4e90-95e2-41415974f9c1 CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f25a37e-aeb7-4f8a-b003-3857f2248a84 CLINVAR:447494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bea63bd8-bb94-46d1-8647-c41c19a7ba6f CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6835f2f6-a765-4f7e-aca1-55b6bb3e0cbf CA6831859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2f703c4-6d9a-48f4-8965-aa6963642d0b CA6831859 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f89c480-8b34-4a61-8d5a-58e05eee127d CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6995a08a-8c27-4e78-b0ab-cbb330019868 CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9bc44a7-5c68-4e4f-936b-ee796aff7643 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3556a1c-c621-472e-a1d6-ad98011df987 CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f232014-9901-469d-9b68-858d9b834a02 CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f313d996-1485-4df2-a43b-480b1e182810 CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee97a68d-2964-46c5-8b74-98e2ad66fdf3 CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22831e2c-f559-4a55-81a2-ac18b3169413 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c57aba-39b5-47d4-b6d4-cd12ef7e6462 CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edd8932e-e284-4002-a76f-9e174231939e CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a93e5e73-593a-42c3-b15a-0899483f9d29 CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88c951a2-8b39-4928-b4d8-94db2efb5602 CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80eb098-5b73-4db4-9898-f86814f13a99 CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e44b2ddc-a7b8-480c-98f4-0f1e43f362ac CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ad9203-f1df-4566-ad70-e13055851701 CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56352fef-115a-45d0-9bdb-c9753e46710a CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bdc097-7a76-4e4b-a8b7-af627f314831 CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3349d150-ed08-4a57-b63f-b7db5107a9df CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01026275-efc5-4c32-961a-298e2a20a141 CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e1a6b5c-dbd7-47f5-a4e8-23a13097fbaa CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40db04e5-da6a-4376-9f37-5052135429a1 CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 255075b0-44ca-4837-99b7-c4fce22a61c1 CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea3c3a2-f71d-4030-8e98-809eb3bdf00f CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e4ffbce-a9b0-4b2b-91f5-39a2b7b2c603 CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f113d05-9ae7-4013-8faf-7868523a340b CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fffa9c7-a648-4185-975c-431ddc6eb1f0 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8ddc98-ebd4-484f-9ff5-0ad87ee1f40d CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cfeb67b-87c7-4337-b5ca-d00a3129e971 CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5aa511a-b096-4d66-84cd-3afa8b3cd8f7 CA386941334 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b00d491-aa30-4bf8-9c61-df0f2ed9a39e CA386941334 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633acfc6-779f-43a8-8df1-10e585964bc6 CA386941084 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5efaae53-32cb-4a4d-bba4-f9600ad20f75 CA386941084 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010c379b-481d-4c39-9e54-5a20063a1a0c CA386941079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53dc09de-22d9-4eed-8b59-b06f51e4584a CA386941079 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad5a93e-1f6e-4dc0-bf61-cfdb01941a97 CA244513452 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eeddab62-d530-49df-9f68-0f8866c42818 CA244513452 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820e86bb-59c4-4fcc-bae6-a6d49c072a20 CA2573051041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed091113-99f3-4401-812d-5d7713f9d5d1 CA2573051041 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a732e6e-3aca-42b0-88d8-74309e3398ca CA386952842 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72eda734-5a58-497a-b7e3-1589deaf30dc CA386952842 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836e39b1-2300-4ede-89e3-dd98784a13b2 CA386958679 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 535354e3-b055-40f3-8a27-ac49518109b6 CA386958679 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0f2c8b-42ef-415f-baaa-c37ac638fecc CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d8fd3c1-33e4-4dd4-b495-32e9888d9d6f CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5295051a-6498-413f-b7d4-dd2bcbfeb8a4 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47d627af-3bfd-4c4a-bbac-ce49430cf558 CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f7536e5-31c3-4979-9218-ea5bb88b8d4d CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 117838a3-d4b6-4136-b6fc-a11cd171fc14 CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92a42ca-cb0a-4999-96d3-1d88f08d1941 CA386970422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1efe2a1e-66e6-479f-a675-a925f90d1f78 CA386970422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca380fa-e686-47a7-8105-6bfa4a579184 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85a36106-a1b4-4d5e-8834-33907783fa25 CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fe86a0-824a-4e0f-9b9e-4da95c685d6f CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 251049cb-89ea-433c-8aff-d717a5144ca5 CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9b84c8-7cff-4e56-ad8e-9ff7badbf23b CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0283e19a-ce6e-452e-9690-ec8676e3278a CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf586715-641d-476f-9a35-8eb0b3c49131 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92b0be94-56bf-4cc9-87a3-5b2b837ff5a9 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f5b4de-e512-466b-952b-503f1c0514fc CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffb8fc72-b3ff-4d89-bd90-34e7f1522834 CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb07b52-ca07-4d43-ba6b-88096ce9eac9 CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c7ff85c-e85e-49a1-92c8-1c66a85f95da CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80492fd-6b0c-4377-ae32-3f81daa8d10a CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98d58808-81d2-4608-b357-fb5c1ec93f44 CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5611dc5c-152a-42e5-9cb7-64864834741c CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f878091-59dd-4cd6-920b-d0e2ee794add CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07800d3e-67e3-4172-be45-2f22d77ebd4a CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09f1c45e-c494-477d-a6dc-878618d8b326 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 551f69e6-2b56-4777-9fd3-ff5ce7b3bc58 CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea2db0c2-23d6-4571-9402-e9b8f69281fa CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb1c1a1-d98e-42d1-ae37-a30b3c0fe206 CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d8c5fb4-7638-43a1-b4f1-9d4e0b1c74d5 CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7953eb9-8d05-486c-9577-80d28eb69873 CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81575745-a8b1-41dd-acf1-3946660131ec CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad964cff-9bee-44e3-9b0b-79b3514adfd9 CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ad4f69c-dc8d-448b-a7e3-f69d18423bf8 CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a882f5-4f59-45ed-a0da-80cf478f7178 CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a73474bc-a856-40c8-87f2-ff0a8a4aba0b CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37f390c-5f69-446c-9ad0-474526eaa4a0 CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcc810fb-9af9-46b8-9f72-8e9111a95b39 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4556d0f-6087-42b9-ac95-0d50d557d610 CA2573051050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b84a228-63dd-4c1d-bccb-68127c3b0d22 CA2573051050 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d62ad52a-4248-48b5-a4f2-610155073786 CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16897caa-3dc0-4a09-b903-b9be2c2cea8e CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c5a3844-82c5-4e9e-8a0d-9f842fed0ec7 CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31c84550-26a1-4370-8c9f-7c24b67f1c8d CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a39e822-f28e-4b6f-b251-f0d2538d0634 CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9877810-f533-497d-a394-e601213ac3d9 CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9fc12b1-b10d-42d5-9385-6176f54d9e2f CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c91e8947-cd97-42d1-b8ea-4fbab5a34cf2 CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e74326-53d6-434e-9dd1-58cb18e2e1e9 CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d3433c4-7142-460a-84d0-88a96508c847 CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06cbb941-e9dd-4491-9210-6c5f3bac9075 CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11bf6c39-b0d5-4f4a-95fc-b8a4bb2c1ed0 CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349fe70e-1905-419a-8362-b864b6107237 CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c498dc5-adff-4039-9380-a23c478de7c2 CLINVAR:250957 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd157d3-92c9-4431-a291-c42767852189 CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb607085-9181-41c6-86f2-e6dbf57ede46 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d4fb5c-a5e8-4ad9-9f0f-763e8be976e5 CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17919f26-33fd-4950-bf0f-d0ce1659d879 CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5ec18a-ee8c-427d-a4c2-feda2252e8a9 CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6071904c-0fa5-4fd9-b1f9-4b9fa6083bdb CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d35cb14-62d4-4926-b452-29ead8cc0147 CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb7249e7-2c8f-4029-b37d-065669e05222 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe341cf0-0e8f-4f8c-9a0d-59123648c8f0 CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be52b7ce-41d1-48ed-947d-c7646f3df603 CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bae077c-f664-49bf-a9f9-5cc9fbf4b92f CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de8c05ca-af6b-4de3-88c0-1506c9d3e55e CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc40127-1c88-4f9a-8bcb-3ef395cf633f CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bdf9212-e360-4304-8593-704f55203394 CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbdb6619-ea38-4c63-94fe-ca8ad45369e6 CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d419f94-c7c1-4c71-b334-f0cd9ce690cf CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d87990-933a-4dbd-934b-fe28de794186 CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4b2d029-d4fe-40f5-a1bc-7ed44d7bb2af CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d94a67c-11fc-483e-b7e4-d1e4b0d3615b CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 401599f5-44d5-46ca-8e75-0e2bc07c19aa CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4807bb7b-b577-42db-8595-04f6ff6aa14a CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0466b89-1db9-40c0-93d7-9b995f64796f CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b982a110-a581-45af-af8a-bfabced034da CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02476fff-6767-4576-9c19-b64cbec5cc65 CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aca45ce-966e-4607-9c32-75d47de21b43 CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51b406db-657d-4f0a-82fe-43013b145a82 CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12523ac5-865c-4c2f-ac2e-58f3299b8042 CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af56f7bc-2194-4f0d-a216-7885c8a6e00f CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34c9180-5d1f-4c64-a284-d26f6906e74c CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84d1e258-04c8-4c23-aa4a-2a541eef70c1 CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adaae488-d017-4fd5-8383-74cb3cfdef28 CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0714388f-a7a1-42c9-acb4-ecc9df3b7cf1 CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eeb8719-9130-456e-b7c9-71332dc73e31 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce411fae-e586-4380-9336-3060f4274c19 CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f3a6fb-5226-46b6-a2f0-a071228878b6 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39c5b9e6-9df8-4060-b3ca-6fd76f7c677b CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf14b0a-f927-4299-955e-4a418cf216d3 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33fbec03-931c-4ebc-86e7-5b552b4d6ec8 CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b964c611-421d-467a-9793-7af2eda7ced3 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b01aa69-6d9a-4459-aaf9-77cb8409a4b9 CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76442d3-ef6d-40f2-a940-319a709f16ae CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 372e7f8d-a4bb-4e80-973d-3f545c461eb6 CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b54774e-cb6b-4329-bdd2-38e4ecdb4512 CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47a327ce-5b36-498b-b882-981d7e66e9ae CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185694ce-3165-4023-acc7-9b292590ebd6 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f794c381-e176-4033-ae05-5a27e2a7267d CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf0c664-296b-42c2-aeed-918d38aabbcd CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a49482c2-1d83-4e14-97db-e1c9d45a69ca CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2343b9-884d-4d43-9ad3-88a953db0398 CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 418e8e8d-90e9-456b-b413-39ccd3f38d2d CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c75ad8f-934b-4488-a08f-13a892623577 CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55252d1e-303d-4a6c-a26f-15b366cd297f CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b36b40-03e0-4cf5-8c12-773d9c2c213c CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06360905-3d9b-4775-b6cc-25b3fe501a99 CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f717d5ac-4e85-4c75-bf77-e0badcdd3b95 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22fea47b-379d-461e-8f96-01d8d4ae4b34 CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df4bb141-dce9-4cd4-ad0d-456415023fc2 CLINVAR:382774 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a8ebc45-e152-4908-b0aa-270388dcd574 CLINVAR:382774 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503d26f7-fcdd-4d50-ae7e-7a6ae30bd70b CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7289fa4-1868-433d-83da-4e954eb560fe CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554b4a34-5e41-42fa-aeb5-8b4ee3bc8085 CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0201dfac-adf3-448f-9533-31c2a49769af CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5952eb-3f30-4ee6-abd9-56c67c5abceb CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76c2dd32-1732-406a-8d7f-3586c5bd3d5b CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db5c274e-a80b-4ef8-83b3-8a304b585a44 CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b3b9a7d-7e4b-408f-baac-c9cf0c731052 CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe0630c-4395-411b-9e94-8c86e220e043 CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b564e456-4df2-4325-a36b-d7b6b2c8919e CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817c15e5-35fd-4f83-b7c7-e0058c17b6e8 CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb0f348b-2521-4db2-809a-6388b52b9020 CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0895da57-d3d7-4dbd-8a14-c0ac2f4d815e CA386940950 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79cba8cd-ea0b-4e87-9ee3-9cfb8fbecef5 CA386940950 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5948f5-cddb-498a-995d-55d2f612043e CA2573051044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40c30151-43ec-46e3-a048-aa31ca93219c CA2573051044 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a3fdca8-6376-49eb-b848-b91e83e2f670 CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50a59ff2-6fd0-49e5-b7ac-ac54fc33631f CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1809496c-c5e0-4673-90b4-4233b476612b CA2573051043 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43bdf714-f114-4e5a-a1a2-ca471d2b928b CA2573051043 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775f78e3-cbd1-4b15-b5de-af29ffd2bacc CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65284b8c-80e0-4c37-9938-ba505adea79e CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3713717d-e19c-4ebd-b4bb-6cc4e7ded0ce CA6832194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5781c21-ffb3-432f-acbf-67867fa73180 CA6832194 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 040a0629-948e-47df-8e73-4aad275ee475 CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 784c92d2-1e91-4c80-be27-15379fb1907c CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9faa4592-5c88-4714-8df7-7fd4ac06f356 CA2573051046 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7ed4f69-b0d0-42b9-b910-5fe4fa1abcd5 CA2573051046 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9549b032-1a51-440b-9e57-e362b7a21fbf CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab747dbd-cb61-4059-9e71-6a668f5c6fbe CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8de7ecd-aac1-478f-8094-f540df1edd94 CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c392339f-8cc5-4803-bc85-dddec7421609 CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfaa9d9c-4edf-4ab4-98d0-7dd24a348b98 CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca199313-4f4a-4944-96c7-3ae47c74edd5 CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab49ba0-8113-41ac-acaa-0f7987b56801 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56619d4e-4dda-40db-bdd8-faa5e84c4e5d CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac04eaad-e1fc-42d3-81a1-399f41626d4d CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 720d8764-ee7e-4d8f-873b-018c59063d7e CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5cb36ff-9f1d-4530-9443-82142b0b4bbe CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3f65ba1-3e8e-4860-b274-66ea671eac7f CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196b92bc-0dd1-49a8-a0e4-feb377c30ec2 CA401366477 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af856ef5-b93e-4f68-ac61-44b4233cba03 CA401366477 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d92579-d2e8-45a0-b801-089bb5b7f1cb CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 362692c2-20f5-4824-8f02-de73a4bf34b9 CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d90295d-2f5f-4851-a427-45681bd83f82 CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c14c71ee-0ffd-4cc4-aab9-5113335d87a1 CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0766bb5-eb66-46cd-9cdb-3f2b88811a66 CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bb12aab-dbe0-46ed-b344-ea6cc09d5e9b CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen affdf660-9832-4afe-9c2a-12de5a5e6a12 CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 292fb004-a53d-4a8a-95bd-5648039f7959 CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1063748-d9ef-4002-be8e-89ca302f7cd9 CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456a6222-b5e7-4358-a941-105b73c9f099 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f52db16-d2f6-4c53-a64f-24102dae7d39 CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf0be65-dfe8-4148-a53c-6600b45d4298 CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3d63d86-6926-42d1-bd9e-99cbe2aac968 CLINVAR:48253 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d2cee0-d1db-435b-96de-fb2656dbe631 CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34c5b82b-98d9-4c2d-92ef-b8642cd9d328 CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1bd41f3-81a7-41f8-b3f0-dd3682786bed CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97783ee1-3f0e-49b8-adb7-92d090efe89d CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b0693f-e27d-486c-907c-c58bc0e6a41b CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a55a3ac3-1891-413a-a6ba-60a9b277952b CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c296a112-2edc-451a-9cc6-d6006f5f467c CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf6dd392-7ec5-45da-b4cf-f2faac64905f CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1d34b7-fbc8-4370-b23f-447bfcdad60a CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8e18684-a8d8-46e1-89f6-df22933c5512 CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b63c843-e20e-4bd2-a2cf-e780276cf83f CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a1e7797-10f0-477e-8d2b-d7da86386237 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5af5eb1-f7e2-4e9f-80af-2f16e7d48da9 CLINVAR:504630 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35ed4b03-2315-4595-8138-e3370fcca7e9 CLINVAR:504630 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c53087-2e9b-4af1-a235-eb7874750cbb CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6f7211e-06db-433c-b0dc-218b9403024f CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10209423-9a04-43e4-abd2-eb64a7677ad9 CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92124698-e40c-4353-ab50-004cb308c449 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283bed76-b92b-4543-9556-85b7a5dc1921 CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45efa8d3-0c9e-43d6-b5c8-39a140c3ec83 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb1587cd-ffe3-4507-a9fe-a47b81104ae1 CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e1c8dcc-8efb-44b6-8179-49b434ec5b9b CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b86b950-15d4-4989-8359-b55d92e6b58a CA401368920 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 146df2f6-a5b4-4320-bd14-5590adafd87c CA401368920 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1fff28-17a2-490b-b7e2-4b6749a45369 CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6222834c-7782-4f80-83ef-7e680a86ef43 CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0403d90a-f71e-477d-b99e-03676bba1842 CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 267a72d3-9c5f-4ceb-abd2-f055ad6c45bc CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b39d3999-a5b1-45f7-af0d-38318a9a5d44 CA1244303 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91aa2cb1-5cd5-452e-aecd-f593b0c77b02 CA1244303 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845f4cc9-4f0d-4881-818f-7fca61bf3157 CA343726016 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a46f998f-1130-4230-a5ff-f5601666e2ab CA343726016 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54ddb16-c7c2-40fa-9b98-5dd11b11f1c8 CLINVAR:7952 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a96c670b-fe83-4afc-914c-d226c3a3167c CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6deb5271-f42e-463b-9170-6fd949238d8a CA1139532728 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02015a7a-a62b-4cd7-a239-976d9a3defd6 CA1139532728 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 923a90e2-c835-4ffa-97bc-64941d9b41ab CA1244053 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee1c3bd7-f4ec-43d2-ae19-2b12f527d0b1 CA1244053 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4c21aa-1455-4c46-b23a-feeee2a33be8 CA1244052 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d901583b-2db8-498e-8f80-e4d3eafe78b2 CA1244052 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e28eb7-407a-4b2c-91f1-8421f320615a CLINVAR:7954 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c233294b-043b-4013-81d9-efce930eb6b8 CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee6dd4c-5c71-4741-8be1-6f46ed8c760f CA343724072 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4df6d218-f182-4303-94f1-cb6ba0808695 CA343724072 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f87477d-4f31-4d5f-8926-36a2ce4499ba CA1244050 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b0f0e3a-3e9f-48b6-a682-98cd4a8adf01 CA1244050 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73a2508-4719-4544-bed1-03e14788a49e CLINVAR:7956 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bdbbde4-cada-4bc9-8a55-b5054303ae8d CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e80160-bb0f-46f8-8e9f-152b0ca2eb62 CA1244034 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e6e8b2d-32f9-4629-99af-a3f52da89fd7 CA1244034 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4c6377-d2d6-4067-8ef1-cd3a8157b6c7 CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ca531ee-8f24-4dd7-979d-ab9cfa36b2a1 CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c29255-36a0-4649-9f4b-bb183ffe62d0 CLINVAR:7950 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b851cb4c-e6a7-414f-b082-9b5838e7c7c5 CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeada441-d65e-4e98-8483-1d854a1a6699 CLINVAR:7951 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e6100fd-8480-4b75-a6e3-d5675326fcbc CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50506d6-e43c-4c53-bfa8-5ddebc09f5d9 CA343723150 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d24676f-2469-4dcf-b7ae-160811f395b8 CA343723150 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae5309a-5e0a-4188-8904-b073f0345195 CA1244022 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 488bcbdb-586d-48f9-952c-e835be4b0ad9 CA1244022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a803788-9b8e-4289-aae2-8fbcb130aad6 CA16616748 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b7192e8-13c6-433e-b342-c63b2c7612e2 CA16616748 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57155393-3d8f-4f14-9014-be95bb2ec485 CA343723135 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d73c58c2-0d1c-4631-9a99-362975bd2c3f CA343723135 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ec6d6c-95a0-49fb-9867-a916f9625a1a CA343723138 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1261d3b-5f5a-4d2e-9535-5a0c1c0f03fa CA343723138 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1c0e2a-0490-43d1-870b-07f3a2f51efd CA343722912 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c7533c6-9992-412a-91f7-08cbf04fbe04 CA343722912 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72137fb-7d01-4563-9a5a-3a9074d4d71d CA343722844 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0d67607-fbf5-4ff5-9ee5-956a8ec6f645 CA343722844 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13172404-6ad8-4c52-bc85-439237c7ec42 CA343722837 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d26a6675-3d53-4983-a407-04b3d5f63048 CA343722837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df4a761-e39b-43e6-8552-34fcf1521ca6 CA343722794 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ff1058b-b10c-4c72-bf2f-312db0146a33 CA343722794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4370b9f2-86e3-41eb-99a1-ff9694b5d8e7 CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53fa6521-5332-41be-a36d-13b78ddb66a0 CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7d819b-8070-4f85-8059-7ffef2097d86 CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f679823-6c2f-4695-8f51-fc90e79e7ab3 CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9c87731-0441-45d8-b8c9-8fc8db523829 CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d57abf4a-b9cf-45a5-8dc8-c79fee63f2b6 CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826e8437-106f-4778-8be5-4e38bbea7bd3 CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ea4fd64-6072-4f5f-8303-b76767016bde CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa96eea1-0db5-44f8-b815-ea4de00a3003 CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f47bf85-b8a0-42bc-9362-06259cd247f7 CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e22e63ed-ab45-4ea6-864f-bf91690c0347 CA913184733 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2edbfa8f-6733-4d4f-bc98-d63fad60fb12 CA913184733 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fbe0794-c1e8-4864-8891-62e869ba9ade CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 472cbc08-408a-406f-bbf1-61b98867b840 CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dea30974-c44b-4a93-96cd-9e75d2460c8a CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab7f4bbd-f60a-425b-84f8-fc00930180cd CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5317ff0d-503a-41af-b325-f793200fb479 CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82c3cc65-1a9f-4a37-a7d5-aeb3b392839e CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c81756-6c34-4742-bf5e-c64d1946cfc5 CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 088c7f19-0da9-4660-b6b0-db2c7907b7f7 CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca036117-2825-4f8c-9516-40aa484a73b5 CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4422f7e3-4c48-4ea1-b7f2-46494efc6a63 CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e7b8ca-34dd-443e-bea0-64db4ec9bb50 CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen febf7750-a6e2-4d2c-bf3e-12f270249a3b CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c84c7f8-c293-4497-9d3f-e010daf2c595 CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ae1e0c3-bb6f-4df1-b62d-56be2da805f0 CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b3cf61-d8ce-488f-9acc-b537ee6b0107 CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen edededbf-cf7f-44be-8d01-3f6a4c57c1b9 CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9504fa-3d73-4b7d-bd7b-9124d14ec858 CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f128485-6366-4941-9a4b-7d73271a9e0b CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf7330c-16cd-4962-aa4d-8bb875f77cf0 CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1463ef53-1b8e-416d-ba7a-eaff92b8c7d7 CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39a7f19-7eeb-43ad-b8e8-d14238071039 CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b28c0f17-52f3-44aa-9032-1e3ff2489522 CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35cea5b-1b37-4801-807b-0f0a71d1b4d9 CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3ecfaf6-b71a-437e-ae8a-777b5588e08e CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c875a40f-4771-4f07-b5ca-6c2ff20449b5 CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5edc73f4-e521-48d8-8978-7d2ec7b6122d CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54e54a4-5a63-4d9a-996a-d7de20000b99 CA16020900 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34c54454-3bef-43f8-9eef-dbedc27bd5a2 CA16020900 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0acb143e-8577-489d-b61d-bf5f639dd40f CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98aa7008-4b2c-4ae3-a8a7-356c78895793 CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a4c3d6-a6b8-40b3-b6e7-c7d2d6dec7e3 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c56e552-e1bd-46ec-9d01-473323c63181 CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a92b7f8-ee54-45b5-8405-fdbd44084841 CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2de9729b-8865-4d55-8af5-454c67ab04ce CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91ce58e-20cc-4229-aae2-143073985cb9 CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 965569f6-b3ab-4b84-b7f1-c99412f574b6 CLINVAR:1691455 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6c2d93-26a2-463d-8bdd-c9c3aacd0d95 CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f5e59ed-a798-4efe-bba3-6555a81058be CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb164ed4-f150-42c4-91af-f13b1905d609 CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 680dd4e1-caae-4c95-9c3d-1136e24c25f1 CLINVAR:1691466 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48b6992-bcb3-4c9a-8ea7-7357a0696958 CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ab3cc04-53df-48ca-87df-efd2411247e3 CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44547237-03aa-4bae-a769-a6aeca9eb0e9 CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f546cfe6-966d-42b0-89c6-dab314d5d853 CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eec9e050-3a77-4efb-9fd0-dced6c6e1055 CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d33c3c59-d30e-4c54-8cb0-de14c12eae1e CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3d2d7b-9bb9-4714-89cb-4a3506aeefaf CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8a0d831-c7f8-4509-8d54-96f3b8c9aeba CLINVAR:1691484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62df84a0-ae42-44f9-9407-94036e4b6cb9 CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f44d58b-3d42-4fea-828a-7fbad4a32074 CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b4e59f-e2a4-4ef3-a7f4-aef07dafdaf4 CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f60c365-7690-48b1-b261-26350b2c0f8d CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6c65f1-dd90-46ca-bfba-f9c187b60d9f CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9808bd75-fd00-4faf-b8da-11d68e8daf75 CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e557ba58-8a5a-4b66-b278-2604ca9ce45b CA400029054 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eed821cc-10d3-47a5-884e-60cf786106ac CA400029054 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5847b2ee-fb71-4f32-9fba-d82f3ddae3f4 CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05ab7cf9-580b-4bd4-8303-c45d368ccb20 CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf65d5b-9aeb-449b-b7ea-9503cc4a2fc6 CLINVAR:1691489 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fe05fc5-1d86-430b-a7bd-5e79093f39eb CLINVAR:1691489 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0e8d02-f077-4a00-954a-efb8488f9c04 CLINVAR:1691456 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d9603c4-0747-4da9-a1f8-3d2e0c50473b CLINVAR:1691456 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e501b10-e4e3-493f-a6a2-1725cc010340 CA915940701 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ea6e98f-6c01-4cd9-99ac-6d7b47ad39b5 CA915940701 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbff962b-f9d8-4c8b-9333-d83876abc7db CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b566b7f-e687-4baf-b799-f8877308c831 CLINVAR:1691458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d2f952-ca25-4d38-b77e-c94ddc07cc30 CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 733617d5-1661-43f5-8491-e182e9bb3d69 CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863133df-383e-4ab6-b977-fea79d061bc8 CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2fb2ad8-c27a-4b05-85d6-37a3312c157a CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edbcaba1-7d6b-4e98-9c3f-577307d8ddad CA400032596 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48be92c5-c909-4cc0-915e-10fe6d3811fa CA400032596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0566b4e-e27e-4ff0-b62d-c1875def4b58 CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea550152-e86e-44d9-b50a-af503442fd92 CLINVAR:1691462 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b29c07c-f4a6-430e-972f-42eb84ffa068 CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13c23ab1-4bb7-477b-98c2-9286583f59bd CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c842b1b-603d-4025-8ceb-79fbfa642fae CA915940690 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09b26b00-c674-4325-a914-1eab8e49afa0 CA915940690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4317ff6-f557-4615-b9aa-43af9c085842 CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 458fcb4f-3e9a-4971-b7a1-f31f17139efa CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae69e63-13b0-4c68-bc08-dbe77992157d CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cb85bf7-02af-4e32-a927-52c940a7b4ad CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66045bd3-60b8-488a-85ff-5e1fdd3c919a CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52330911-a29a-4e13-bb2e-489e835070bd CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08a8b3f-89d6-486b-a6e8-d1565f5dd149 CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 415f4dc5-18d3-478d-9839-6125cacee8fc CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7744b4bd-c93e-4f14-bcf3-d8068569df96 CA400032481 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 479c2dec-3e58-4aa5-bf0a-5969a999e856 CA400032481 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8f2775-1956-441f-96f0-8f9335809ad1 CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd92f5e1-cdc8-466a-95ce-9a2ed450c589 CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384d3eba-c305-4048-8414-afcacbd05c51 CLINVAR:627290 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd2a23a2-b3d1-4182-a9fb-7328e5f0869b CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a452f9d-6954-4e9b-87fa-4ee586c1bdb6 CA400028389 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8af28827-349f-404a-a256-247fe064878c CA400028389 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4134879-defe-4fc3-9477-18ca2ca4e663 CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f693316a-ca61-40ee-9141-2a40f9dc51cc CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46c96bd-63d6-435d-850a-61b173f5c4d4 CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f1114ec-19a7-41f8-be38-ad9a737dc51a CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c31a90-b77d-4a20-aec0-b1bc3626b0c0 CA400034691 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1625f80-4b81-4bdf-87b7-fe9df9fa9bab CA400034691 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0f3b8a1-6d14-40cc-88a8-cae7433d38a6 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fc8bf4d-b8d2-4c48-aa47-571b7388d220 CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0fea7cc-aa04-4b6c-88b0-63133b485b0a CA400030171 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb5438bd-5036-4d20-b439-21ea8714133c CA400030171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fa1a08-f320-4e75-bc14-c9fcf21658fd CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d2dbd10-20de-4cff-b410-13dfe6429a16 CLINVAR:1691477 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1950af5b-671e-4adc-ba2a-ae9470bb3f47 CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6eaa190-6a1a-4c0e-8440-1530e9f03047 CLINVAR:1691478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086ec305-f266-4642-af63-3cfe1e3498ee CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2836dd1-3466-45bb-8e10-54d17b4536b8 CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d961424-6341-42a7-83c0-eda7c55c450e CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d6b3997-f097-4fea-9744-e694de012226 CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d4479e0-66dd-407c-83bf-655d6d11197f CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 681c141a-0d42-4596-87b9-45321a6df385 CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a489497-7124-46d3-8bb8-29944bc52b63 CLINVAR:430539 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df2b252d-581b-4168-be42-ea3cf7bfbefa CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8084fcc7-01a5-45c2-b7e8-86d4f720c44b CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1885a5a8-0f96-4da9-98ad-269c15f6f41c CLINVAR:1691490 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5da2d50-5834-4408-937c-cc63334b9eb5 CA626224378 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7843adcb-0504-45e8-ad21-0b4172ff0584 CA626224378 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d975a0c-25ef-44a8-b3f1-3ff590c89e85 CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d9e247a-f273-4681-b1fa-b415197ea108 CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67bf3ebe-4c45-4f59-9b94-d4e26687863d CLINVAR:1691482 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5c7865a-074b-4c2f-b3f8-15699f5c964a CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1aa9c7-2e47-4a77-9480-7204ed67827a CA400021843 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a740db7f-334a-4e5a-b2c8-1c0a8983b62a CA400021843 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a61572f-3782-4e51-9ea6-539c2a214ba2 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1eeed5a7-d3a3-4531-830b-5bde6b26cb76 CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f86acfd8-60f2-4fca-b341-33faf6f279f4 CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 086d67a3-c479-407d-aac4-ed3c79b96780 CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d67e7c9-6357-421b-8da2-a0a9b5dc3361 CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eff8cbe3-6af3-4634-b8d0-ed7ee39b11ff CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f28c365-ff8e-4f8c-bd39-6d3816b9400c CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66a798aa-9b84-4944-92ea-a1d636242a57 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ed4d86-3aea-4355-a4a9-21c4805e1a5f CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ee559f9-d7c5-4ae8-8acf-92e0364834b6 CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd8654b-d6ec-4192-98fc-4cf979c962f4 CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0c2c10f-3646-4e23-9b3b-634c3286b6f4 CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7982522-a05c-4053-beab-ba65aa7fdc27 CA386959501 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5702199c-c0aa-4d09-bd71-53f5e031879f CA386959501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13ab7b2-8432-4c87-8deb-9dbc2572dbc6 CA386959510 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f697f0eb-21a8-46e9-884d-2783ad709302 CA386959510 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd349a7-969b-4232-b31f-892fbf13b644 CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 514d12d5-255a-497c-b808-acf3d8a42979 CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147d10b2-b112-4c30-a65d-0b12997c5a51 CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c4c48a5-9680-4653-bff6-761d2680f790 CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7b5820-fdcc-4e77-8b0a-d3fce3e11d63 CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0ae3603-d19a-4b4a-b8d4-6d5f62193a5a CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8dec4a-a1d8-46d8-b8af-9a407690fd6b CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12f6c700-f520-4113-8f21-f1bfd4f4ac42 CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3177b3c7-df39-422a-a0c0-ddc509e12db8 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52e71710-ca13-4184-b2fe-748a70edd05b CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ad8cba-ae46-455b-8be3-0c6d5b7a8efd CLINVAR:156657 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45f3ee2c-73dd-4982-8e7b-28c824abb0aa CLINVAR:156657 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065f564b-40d8-4aa1-9e7b-137a0796332e CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc6c4ae2-3e56-472b-9b6b-96b0ced9305c CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49dcbd21-cf01-4c57-b485-a8118720dcc4 CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de14ad3b-469d-4415-92e3-db0c5305e64a CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7984fd0a-7cdf-4a56-a4fa-6ba3d48c8bfe CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6edbba4d-9d5e-4d3d-8484-b4562170feff CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e35112d-c6dd-4f6d-85e5-fe76a2bdb41a CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7afa411f-3fc5-4a9e-8d19-87e2bd40ea8c CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce5ed49-2bad-4f9a-b0b0-b5bac6d9717a CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38b5f577-f447-4a80-a52f-05ad61959421 CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e5aa9a-59fb-4b6d-9b89-730ed6d00e46 CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1df812d3-38e1-4468-ad8a-3bdbfb76419d CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3c8cbb-1782-4d4e-9f2f-c915ebdc5c16 CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cb5c1ee-b0be-4691-b00d-8219693896a8 CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252a1357-e49b-49a2-929d-b8f62f100853 CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18d4aa57-d523-4e77-a856-632e3532b2fc CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b106b3-73c2-4b99-8a9a-6f189a243b5b CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 160bc9a2-526d-4b16-b5ec-8c284a721950 CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff40d6db-7e4c-4be4-b464-aa0794ad0f4f CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen facfc643-9c94-47ba-8590-2d530a5b4281 CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff6803f-3a75-407b-8450-2dd1062062d6 CA386965978 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 724008c0-5809-4685-8e8c-bab18d528e13 CA386965978 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8dea18-190d-4e17-b278-3592fc50e81a CA386971639 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6aa9d236-b5d0-4564-ba27-7d945d940a04 CA386971639 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441f71bb-8333-4484-a5d3-c5d13cfb42e3 CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02c514b3-37df-46f0-b1f5-de2d453ad16f CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0ed183-7be9-41d6-a6d7-7cfbe6844cbd CA401363493 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c619f25-3723-40a2-9125-4af7bef63867 CA401363493 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466d7784-4d4f-4bf2-9385-2a40867b04dd CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fecd7344-7007-4f0a-a46d-e83202b896e8 CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2140bc73-beb9-4bb4-999e-299486caea67 CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ff95e54-d03d-43e1-9909-85955e639782 CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e034593f-89bf-44e5-badd-36ec6593944e CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c314083c-a3d4-4c9f-b76f-e8bdbdb4e002 CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085f7518-73ec-4502-830f-92d3a08b4995 CLINVAR:1396349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a25da8dc-a15e-4d9a-9294-f13ad6645c96 CLINVAR:1396349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a74e375-63db-4265-b74b-0c5cf6ce9039 CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f47dd27-7a3d-43a0-ac03-c6fedea28597 CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5144397f-48df-4571-9c3e-f3b88443b4b9 CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 519ae1d2-c242-410a-95c4-cf9567b0db76 CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 904cb8d2-2ef7-4385-9d84-8fbb19224a52 CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68e8201d-13e8-483a-9a4f-e9fc7537e451 CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9975d2-ede7-4ad6-9836-dce1473b4c61 CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a72d61d4-4060-4035-bf65-80f820fcb2e9 CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f069bd18-00c0-4de3-ab45-7cbfa29b63ce CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b46cbcf-6e33-4b15-a2ac-aa6ee28288aa CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 083da282-90c0-4e62-8d97-68cebbae71f6 CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6af7963a-ed6f-4ab9-a3dc-13b456c7d8ea CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2dee13-e659-4220-a2b6-9a8c018bdc1b CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c1460d7-672b-460c-884c-b35221923a67 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903868ed-4d40-4ae4-ac14-ec8563b1e73e CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen afa63492-5b6f-448f-a5a1-9b0bb7634bcb CLINVAR:9646 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227c96ca-da39-4adb-8541-51b19ba83eb1 CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 050b21a7-689d-42c6-871a-349a067b29ec CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b14fa2e-ad31-4b16-a7ae-85eb09a96c5e CLINVAR:986501 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45d0e92b-6063-4c8b-893d-66f348bcbc7e CLINVAR:986501 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 440f6d44-71e5-44ce-85f7-81b982dc2e19 CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68ab01b4-fc6e-4e74-a379-e48ae4866c41 CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5834035b-ac25-40b0-83c1-613f4b9c2873 CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1660cf0-e7fc-4216-b90a-0fd09eb5ab63 CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbd4208-8226-4340-b27a-2ab6b642b43e CLINVAR:160214 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f80fa8b3-c40f-467a-ad41-6b005f7352cd CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508a2b66-9f84-4045-af14-ef054a307c4c CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acfa3a83-f896-4d78-8bdc-8d6cb5a5646f CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a625987-1b76-45dc-9536-2cdbd4869ab0 CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5709f859-2661-418b-9f19-bcc182cc69b4 CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6205ac52-8a07-42e0-9225-0ae9f149aafc CLINVAR:1693553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8398ad5-8d37-43b2-b0e9-7047ac0f51ac CLINVAR:1693553 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95bda89-3665-4ccc-85b7-617f0b5a2104 CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5f068c7-a234-48a6-a9e1-43d3f5731fd4 CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd5e30ab-a54a-49ae-9c6e-c44fb91623cb CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a43b5943-5562-461b-b33f-3c90d3fade1c CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b34cc25-1d16-476d-a092-62851c0ee141 CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61c79a7a-d770-4280-b36d-297faee624fe CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd83c74-27f1-45c1-8432-ceb344bde8ab CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6320418f-12ad-4fdc-a769-44657ff60c3b CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d80ddbd-94c7-4b62-a07c-63bc3b81455b CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a84a5b5c-1be0-4a4b-b0dc-e687f4525b63 CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce651ad-e82f-4772-9c98-65d4cfe134e4 CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee01b52d-a0cb-446c-a0e8-540fc8e6859c CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a0e457-abed-4ed6-b631-75607c221906 CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen effd86ea-8576-4f62-8d0a-ac47101d469d CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d86aee-43a8-421a-878c-2587d793abfe CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b75c5eb5-c57f-4122-8df8-f76c5739eb14 CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240d9742-7aa2-4438-9f5b-f14e27f10f7f CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 605d19c7-7af0-4b5d-9b79-23bf95e44c85 CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33dd54d-885b-4fe5-ac6a-0fa1b835ab59 CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2ba0fae-06ac-433d-9605-586a26101c44 CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41fadfb-9964-416d-b5a2-d4f20ad481a4 CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1c953fb-a0fa-49ca-ac97-f117fe8fb5cf CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f4c355-4ae9-4c09-a407-de1e04014ead CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 421290c8-1ce6-4ee7-bb29-4457cd522098 CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87b07da-97fb-4852-8bc1-8e25043a836e CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d44b3a7-5cb0-4424-aea1-921ae37114b9 CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f126ffb-25aa-4f93-ae2b-a800b2cd0d70 CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e8465da-b490-417d-b7bc-aa3716cb7473 CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e3084a-cbe1-46f6-a8c4-9ca5e758f4dd CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 015cb579-cb24-43dc-bb35-e901f02fc998 CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe74faa7-478d-4056-8668-6c69da82dc39 CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1ee8819-dd3d-457e-98ca-a9ddea8c19d8 CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f63907f-a3f1-4fc7-a458-d19b6914d47b CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f939369b-557a-4897-a8dd-7e5f2f22bec0 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a467bdfe-874d-4793-93f4-fa275b011469 CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f984427-864e-4876-9896-0baddf146749 CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3276c46-b024-4992-9f51-92e026ec6fd3 CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53261930-b667-4ad4-bf60-93e7699ad4ef CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c121dcc0-df8f-44c5-897e-f7cf290095b5 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfb71da8-0258-4fe5-a4af-d7d3011dfa07 CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd438feb-2cb0-47b5-85d8-c6087fb18fce CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d583be3-2e01-475b-b99f-6661d90b98b8 CLINVAR:9640 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dd4634-2d8f-4490-8d82-6d2b8d42ec4c CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dd51514-ad17-4bdf-9272-c841599a0369 CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05bfead6-3c6c-4975-828f-c83babdd7981 CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df09330e-6de2-4b55-b7e8-f38f5dd04a7e CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f752fcd-37e0-4d29-aaf0-da07239d45b5 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc06934f-3c1b-453f-bdb4-54ac13a733d1 CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0fb622-b246-45b1-8c1e-0e348331e210 CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d302e0cb-0006-4f02-84a3-91666657d40b CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de95b21-338c-4e6e-b760-5a3c256cc322 CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cc23b4d-6a5e-4af7-8ae7-702345dd9800 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465cd795-fac1-4fde-b507-33c22db8588d CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b184d0db-eb55-4748-9095-3c14416c4547 CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f715585-cb9e-4276-bcc7-713208cd9715 CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 025b3de7-5df3-4933-8077-a59abbbdfdf5 CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c5efaf-43ae-481e-8228-3ceff2523561 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6eb95928-1d51-4c63-a345-aed9a9cb4b30 CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e564fb0a-2b0f-41ce-b7d1-8ab3b15464c8 CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f61515b4-7025-4be1-b75d-5f10bafe5698 CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9223a9da-3148-4e3d-8357-deea15ce9f9e CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c1f614c-cd73-4abe-a934-69415401e878 CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c56b0d3-38c9-4881-bdd7-6c3e98ec991e CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7869851-0d84-4abd-8e52-a6766013c7ba CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96451c35-baf2-4065-8737-cdb616b4ae89 CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab2d05b6-8db1-46c4-a5ab-72eae5f7c0c6 CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9aeaca-3d7b-4bde-89eb-2801cf5e018f CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d926c06c-2f7c-494c-a512-68a8b0c83a1a CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51151e2f-2ac8-49b2-ab9f-166d1f221d77 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca82a8d9-1c99-4afc-aa5a-a04e0d3d5706 CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72fb7e9-52cf-49a4-aa8f-5b003256c692 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6ae97da-9bad-4118-ae60-28f9c1d4b050 CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4bf69b-5a1a-4281-9bb1-ce6887bb6e78 CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c3d5acc-522f-4bec-b877-27f67c1340c9 CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3518d95a-e5d9-40e4-aea7-96e5dbc415ac CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdc253ec-bbd0-424e-ab3d-778c6dba3495 CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3edc50bc-54f3-45da-8468-9f0f70ecb9ac CA386959579 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6974509-0c08-430e-a2a4-cd522935c993 CA386959579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2cea7ba-0aa9-4190-a88a-c99a43f423dd CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07da242d-8f47-4d89-93c2-8d203065103d CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c8f824-50df-43e8-b151-59d3ba2d7904 CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fd8bd90-8b57-4e77-9436-e58f1f987612 CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7e1a030-0a84-4c0b-8470-72e2e8089aa1 CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e03808da-4ef8-4b50-b486-8671951903a8 CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343b932e-39d9-4cc1-b3a4-5d41d3deb6d1 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fbcfc76-329a-4c51-a6cc-449c7ed75d2e CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce214fcc-8d2f-4ec0-b557-ac8c8ba2a172 CLINVAR:627101 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a3652b9-da7f-4179-9972-5735d5923cd4 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e251000-cce3-4218-85e6-8058590fa677 CLINVAR:258182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cb68ddf-d6cb-453e-891d-fd57a841ca69 CLINVAR:258182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0507d903-8405-46d3-b043-d4fd16f383aa CLINVAR:1130934 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92228904-c82e-46ae-87a8-2efc4ce23b50 CLINVAR:1130934 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fd02ed-f442-4239-ba5d-25402b97eae0 CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee404a6b-10f2-4a83-a211-af5900c6de58 CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64fc5bab-ba47-44e6-b88e-f030032d8ec8 CLINVAR:1194557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e510602-c4b4-4184-86d4-3b2299ac590a CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb381d17-0f85-4b47-a348-3048cca8428c CLINVAR:755769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 655f0002-ed23-4e67-aaa7-b49cd83244ea CLINVAR:755769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f420fe7-841f-4e6f-a5dd-dcf055200c52 CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed5984f5-a2d0-46c0-b141-a8162af48207 CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1039a1-226d-42f0-a3d6-26bbfcf39e9b CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db6beb4e-3a80-44a0-9c2d-6fde7385f8d8 CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b15f957-afa9-4c6f-93a3-e417080dd758 CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d99b123-487b-4f58-b627-e5ea3f8e6eb0 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6490af25-2240-459b-aea4-5fb79177ae4f CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a847eedb-3359-42f2-9599-65ba24da311d CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472cf8b4-66b4-429b-acdf-7d50a41c36ab CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa291b45-5b88-4a48-bfe2-e0160a41a9a3 CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e1b135-8fc6-4663-82c3-d0b2439f1d83 CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 075baf08-6825-4f4c-a859-18f522d2916d CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1411eb3a-ca97-48fb-b70f-9896cb52169d CLINVAR:532666 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0399b1f-8242-48bb-9f51-3cf6bd1f9293 CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00716cd-12c6-4e53-ad96-4efbc3188158 CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a670b882-6a20-4841-a905-fb3eae644dc5 CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756b2541-3ff9-4169-bb02-358d935ee2a5 CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08348b10-29fa-4e45-b831-3102f87c1c5c CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43758e29-603e-47bc-88d0-7ec3c2d60bde CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4aaaaca-411f-4116-a299-f04db19cd5d9 CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80df7b31-7f6e-470e-8403-8b896cfde27b CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23697bc6-1eef-4ce6-8c63-b77727cbae33 CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6185e92b-8d10-4176-b50f-0a3bd9eaf0a9 CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a732e85-e4eb-4592-8eee-690dfc69573b CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b164f93-97c4-4e53-88a1-d3c9978f43d8 CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37a29595-a0a2-4e91-975a-06993cde7cec CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 096ee3ef-b7bc-484d-aa76-7074bd4ebde0 CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6917e9b4-9ffe-4e33-894a-1f50a3fcdfa7 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f929ba2-2d1f-4731-9604-9c81794d0a87 CLINVAR:1124345 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9010473b-573b-4173-b722-bd2a814aa930 CLINVAR:1124345 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d30b8f9-e0c4-483b-a800-75988756fb88 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c67cd5a-323b-4238-95b0-ddaf9e80303a CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cacb75d7-27a7-438b-92c0-70850d9619ee CLINVAR:1099856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65e1ebed-763f-4d0b-a3fc-de2fcdfc025a CLINVAR:1099856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6b3011-ceeb-43ac-9adf-6734b4af6b5b CLINVAR:1088939 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7492f716-5960-4b2e-b9b3-60d6bc2b1cb3 CLINVAR:1088939 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2b0b62-4398-48f3-b93b-250c647aba49 CLINVAR:1144056 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9753218d-ef34-4f0a-a06f-d48ee12d91ec CLINVAR:1144056 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98bbfa57-2b5e-4488-ac69-22084f2f47e7 CLINVAR:761366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ebbde15-ac52-4ad3-ad5c-b24aad5e8d83 CLINVAR:761366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d9a4a1-0eac-41b7-9c82-ec7ee93a01ed CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 699bf152-9fac-4701-84f0-2bb1ffe183b9 CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a4cfb9-84e5-4f68-8893-04811c1aeaee CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40535316-e9ea-438b-acce-8455a5f9bf4c CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa5df10-72a8-4ac7-ba97-70a0b4dc77d9 CLINVAR:532661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa2e5522-7ec8-4c94-8a7c-a73fc64aaab0 CLINVAR:532661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ec3c5d9-b981-4005-a13a-fac95bc8378a CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30b9d7d7-ab23-44c4-9791-d4e066b590f1 CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b9ca5e-e486-40aa-8b97-4d2f5f199f0b CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76d1d8f7-0539-4e9e-a5f3-336c82722159 CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224cdd6f-db9c-4884-a30d-7131a969f779 CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a2c6ac5-50f8-44f1-aa76-000eda130b6e CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2308844d-cced-446b-80ef-c9899375a19d CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f115ab1-6fbe-451d-892b-15ba71ceedc9 CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f11790-a90e-4b39-b13a-e8702e2f23d6 CLINVAR:532685 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 633d6c8b-f3cd-405d-978f-e411b54f11c4 CLINVAR:532685 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8730db-7ffd-427a-aa11-b500faef371f CLINVAR:464000 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ca4bffc-f8f5-45ac-9511-1efeb05c1885 CLINVAR:464000 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4ccb5c-c093-4237-a020-f3050de21771 CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1176cb0a-b26d-43bb-b209-a597563adee2 CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78231393-3595-4cb7-8b9b-1dc4a521cc6b CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd686893-2eb9-41a2-a22d-1ec1e408eda3 CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b68bad2-857b-4970-89bd-ddeb020a664b CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b22cb61-c777-46bf-8bce-4fa3af233ea3 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a272eda5-d0bf-4e36-b488-36aef7a6df05 CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 494e9e51-0376-4560-b7cb-6e305ad81ea7 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca49567-a503-4ede-8100-50605742cba4 CLINVAR:1116571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6eda6e10-f8d6-406f-b08e-07eb9fd7dc15 CLINVAR:1116571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fbcc9b-0e22-4bf8-822c-5e6677a85078 CLINVAR:1135117 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 025e0dc9-e377-4741-9c8d-b636964ddeef CLINVAR:1135117 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbdf8787-14be-4def-b76c-73f25b895e4c CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe56636f-f952-497f-8af8-394c35cf2f0d CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527f3ab2-7443-4068-bd50-44be4a95bb57 CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9db194af-c8d9-4d63-989c-9b8bfc2d6045 CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7ec8da-1dd9-4c0e-9436-2660e5c7c03a CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc0abf28-6015-4afc-aa32-1f6fa09b1e87 CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a11187-9bd2-4404-ba5d-c470cd37a745 CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31285b8c-0b97-4a58-ab7b-e7dc0f2c8200 CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be374994-b16a-4055-9e3d-33c0b15acda1 CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a67d7592-feb2-409f-8834-d2b31fda22fd CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a505b97-8008-4465-8fd7-9562da3e1824 CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f627eb5-aceb-477a-8aa0-43b0ee09a8bb CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec89cf7-a831-42bc-a808-c9dcd017c3fe CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8b01063-4e11-40f2-b7ef-e068318c1c7f CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5395a404-aa86-43d4-9d6f-ba4597827c3b CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e49a307f-be49-487a-a315-9de2a3abd927 CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bce75aa-e937-4f29-8d26-038d33645e78 CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62afd057-f0a3-4018-b2c8-3910f356779e CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc83eb27-916b-436f-b4cc-47f4a6dd0ef5 CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 913dbec7-a779-4a9c-b4a8-8256eb970498 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a225678-10e2-4a65-bba1-fa311fb0dda4 CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 634e7747-8df6-42d8-abf5-ee32b98dfddf CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ae70c19-f27c-4346-86ff-fbd86e53a0dd CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b165d059-54ea-456f-8568-aa4679adf5ae CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc15ab9b-491c-4af6-82a7-942812c051e4 CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b292af7-23f3-4b3c-a0a8-1c706e6488c5 CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ab60be-3e67-4d19-9482-65c7390e47b9 CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c98b1e7-8aef-4b85-9073-868865f24080 CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b484251a-aea3-4af6-b482-57001c390769 CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1651962-66c8-4264-b909-ea0bd27606c9 CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac5da76-134b-47c9-a001-f0229fbe7283 CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35f8f9b4-fd9a-4cb1-b2d7-9803396f9532 CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac53ef2-e654-44a5-8a15-20b5598e2c35 CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af257761-accd-4a78-976a-02366280ed7c CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17716a32-be06-4248-9e55-84e7ee4f17ea CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9827c5a-72bf-4403-a402-68cede5c6024 CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83e6c9a-fd4c-4a9c-991e-c3c22b15f8da CA410202503 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen adf9ed70-2315-4100-9144-069612893d9c CA410202503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7de9d9c-419b-489f-88b6-ee570d04aa21 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16a88254-625d-4c5c-a1ed-4e7f4081f693 CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8a4e37-eac0-4fd9-9786-664d68ab6a25 CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e93f90f-f700-4da8-a47c-194ae1f5fcf9 CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f35447-49a6-47ab-b45c-54baf11f4776 CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd365160-55a6-4be1-ba4a-0cbba1996e18 CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9258761f-49d6-469c-8f34-5e420fe68ec5 CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fd85443-7216-493b-9830-0f2dc2f8eae2 CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f988c5b4-827a-4194-853e-d4efd7ed6677 CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8753e00-fcec-4fd7-ad5c-1eab50b19601 CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c58450-66ce-4c10-8706-0d0b8a54497b CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f9535b8-d7da-4480-887a-8e11d2ddcafb CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9baa18f0-fcdb-4c4d-9154-7621b0ef3f40 CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 216c06cf-bdd1-4995-9893-9db2aba79c31 CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384483d8-6e71-4e57-af8c-ed06ce7c1c06 CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51adeb8a-3e26-47a5-9317-ae0584811e5c CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6833675d-2521-4afd-a32c-58d426f0b28a CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cbd9a34-663e-4626-9068-e167bda725d2 CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b61be2-9121-4043-b96b-928eef9998b4 CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ac8c0d9-1b15-4419-9de2-495bdbe0c75e CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b9702d-6f15-49d8-b0ba-80c303edb415 CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 975c2e6a-b9fd-44b6-a7c6-f7e00cb5cfb8 CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d1efbf-9bf6-4e21-8b49-12449832b5b8 CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0d186ae-a732-4490-a8e3-e46b5787a03c CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68437b4c-e21a-4606-b0d7-c3ca481eeb2b CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a9de853-36cd-46db-b59d-a58c1adae418 CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018758d1-113e-4e6a-b466-5335b9dc9814 CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eea12d16-0487-4a84-9875-f30dd5fc63de CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52047d8b-f579-4d39-ab0e-d0a4007dff19 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10694b4c-3e19-43da-a0b5-89b094b39929 CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89696d16-d9eb-48a6-b45d-3d5d32cd587c CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3677f95-9528-4c8d-860c-5a66730bedd3 CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34018bf5-cf0f-483a-9549-f61f60902fa5 CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22f8289d-fc77-4089-b400-8ee64f812d97 CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb98bf9-fe59-45d6-9253-ffa3c7a5081b CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b099eff-8307-474b-8d6f-f5b1165ea0f6 CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 348d8e49-5f3a-44ad-8d8e-76b1722dcd81 CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8b55869-cd3f-47d5-a252-dfeb5536a18b CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a59a105-8973-48c7-8873-96f7d1f0dc7a CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77156b3e-1802-423f-b728-aca7cbe7318c CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 989f0789-181f-4f2a-a914-55c1b42769d7 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a8eac63-0af8-4f5e-a05c-5d7aa1729dfa CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c66e4db9-e1dc-47cb-afd1-94a6902d5879 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6950448b-c7d4-4c34-8655-57b287c92924 CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de8e8e9-7818-4198-9d6d-adb2f74ea18f CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50d98770-6bdb-4daa-827a-90edeb8b2b3d CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0283de-44a5-473c-b869-5e5827afaf8f CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfbda267-8c61-45e3-93c6-20b91bc30c26 CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6efa6113-e5fd-4818-a9c3-9012c9619624 CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8886fbe4-66d1-4e80-a7bc-9f68e354fbcd CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1efe4e-031c-4650-9a0c-fbca881bae1a CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e507cbb-4103-4994-a401-be8f90f8767a CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41cafc6f-4686-4403-be5d-d98281e2fe90 CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c708986-e832-4b63-bd9b-9dca095d4cfa CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4feaae-1f55-4846-a820-1f9065df3edb CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db0ef4cf-b732-4578-a403-61c8b921dad8 CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de55e4e-af55-4fbb-82ea-dd45ad3d045a CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79b17190-1ecc-475c-aa2b-d6972c2009a2 CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132ed623-7086-4c1d-aa63-499280148fef CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5161f9f5-a783-47c2-a02a-17626dc7b7b7 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5953894-4f17-4a25-815a-d496d02dd56e CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5fa2bdf-27fb-4384-976e-f72cceb933b7 CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6f8f4d-afd0-4e0d-85f1-75eefa7a77a5 CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e305e148-653c-4fe9-9c7b-522b038600c4 CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 046a35dd-2db4-45c8-80da-effd55c27e25 CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 320d3b18-fc0a-4789-a351-645480d1ea07 CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca22f13-b074-461f-b77c-5e848d7e6204 CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c376e071-f9ed-40cc-8aee-992b6789cffc CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a5213fe-b5fa-4942-9137-9c798caa3de8 CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 392772e6-3305-4ea9-9a19-4de078b7edde CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be785719-e252-4379-9a69-1196f5763aed CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 885e225f-8e36-42d6-934b-431fda84a566 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb79c196-88a5-42d0-8f24-aec386edb9d4 CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da37b7a5-2b89-4358-96ae-55fdfcc3f71a CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489136e9-fdc1-4052-aba0-4d406d8f70d5 CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cc50033-fdfc-4b74-a1c3-650dc7b7fee1 CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6003e391-f2d8-4bf3-8e32-edb584671b2a CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63924d7a-6eae-41f3-bb03-1333bd5f0eca CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad1ca3a-bf98-4567-87f3-da632c213954 CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 074d460e-b4cf-4725-9c6d-5b067679ef31 CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4863de0-db8e-4e23-ae1c-8feb103cc566 CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 289f5d50-fc66-4738-bb71-4a8eadc20b10 CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8f0fb8-feb9-496b-9687-3f648b8d226d CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c912916d-d1cd-4cff-b211-787270f16a35 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c81ad70-b4ae-4ae9-b262-a867eeb34dc7 CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 127b1464-df9f-4e91-ac15-dd76603b53fb CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd5816b2-68ae-4af7-bdbc-87d32173c978 CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ccd40aa-f96e-4529-bbbe-7733d660a9ce CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901e8a26-f44b-4940-812e-920904b91e0c CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 770c3e93-8bda-4865-8bc7-b35f4f3c32a6 CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d496b61-4afb-4b29-9e7d-7f197eb11e37 CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92825ade-2393-45ce-8715-f9e48a67b198 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5908ec33-0989-48e1-875a-2f0c807e1699 CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed4d95a9-a716-4281-9d22-dd606b378b44 CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac8a5ec-7137-4b54-aae5-aea64573479c CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d262fa01-db93-4440-a5f7-1c3fa879318b CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a759dc-f917-43e6-acc5-8ee79749b191 CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dec1981f-d68c-494a-8bfd-1064c81b91d0 CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6a0023-f376-4df1-be9b-379b0b319137 CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0aa0102-29ce-41c6-813e-edf9c34c47ee CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9ddf36-d78e-4d14-8e88-66f24d393d08 CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1939e43-c9fd-4621-9c80-2c92240ac0ae CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae936d75-cbee-4d4f-aa84-d1cc01894d85 CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 093db99a-a193-4961-8b35-76b3afe41d6d CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2a7e28-0bb7-4e22-9e5e-d2cb08c0e6f8 CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb47b2a6-10a8-4c88-b230-3afca7146dcf CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b0c46e-0ed2-46d2-851f-77588ba2fccb CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cda31843-7957-4720-8c2e-6d3695182aad CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c299ad-529d-4d46-afc7-155208c1a53f CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ae4a0eb-90b9-4363-8f42-ae1c6cb95b70 CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d526a0-821c-4328-9d74-4bdf6639f59c CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f94ee1b-d9bd-4bfe-a23e-0025121d81e1 CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b989290-0143-45df-8c6e-ed0dd9388fd7 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c458c442-f1fb-4157-b409-9dc80fd84c87 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2692151-e58b-4ca6-9b89-9ddcfe779194 CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 563d6841-bdfd-4249-afd1-8a35c8c87101 CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276abfc2-3b90-4994-adfb-ca7c31ca86db CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1512f3b2-96f7-4402-bd42-aa67cca24242 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62db0b8b-4ab1-4bf2-ab06-39bc23af6677 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2ac1126-42ca-4ce9-868d-828568a52579 CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2bfc88f-a252-4eae-bc5a-f9dd91a5585a CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73904747-1861-4f02-b00f-a92d511943f1 CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b557e87-1899-48c8-bf3f-51e9a13368e1 CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8214a625-d76a-4d54-976d-2168dade3c09 CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9835f9b1-4ef4-4c83-ad5e-7a25052743a5 CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d18e8be-f75c-4b0f-9ea9-74ca4479d75e CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd42beb0-abb7-4b28-8abf-bd3d3420446e CA386964305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 718266b2-41b3-439a-820f-5caf9d56fc73 CA386964305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cd7966-e6c2-40cc-b592-00ba678a2b77 CA386964398 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 875baf94-8bac-441f-b3ca-0dff880b14b7 CA386964398 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2f6df8-6e07-41f0-83ed-08de3fed86d1 CA386964418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fc3e79e-e2dd-4f3a-84ac-5d0f3bf5398b CA386964418 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9ab0e7-62f8-47a8-bbad-aa8ee3bdd501 CA386964769 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e481f854-d340-4549-8a24-fbbcf9fc01b8 CA386964769 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a050810-8dfb-45c6-80c5-6699dfcad7fa CA386965156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 392bf388-df16-4849-9327-5ef78eeed0f0 CA386965156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 781032f4-bf4e-4467-bd58-421695e2825f CA6831794 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d704426b-efb1-4b83-9393-90d2c7f3f56d CA6831794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cefef7df-c0dd-421d-a6a7-a48ec2a6d09f CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31ee8fb9-3f61-4db3-98ad-20293f9c8633 CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c90dad-4155-408b-bc43-a826cb9fdfcb CLINVAR:36833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef557cb3-bd9b-44d7-8ec3-0b1444ffead5 CLINVAR:36833 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6329ef4-dbeb-485d-873a-af00e0b00e59 CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16a1c92c-18da-4adb-ace6-1e4c89980676 CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b6adb2-ea85-457e-84f1-d2043a8538a3 CA386972011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37ee9c27-19bd-4973-a4f6-a170cd65bc5c CA386972011 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9be164-1c7b-4831-adba-7fa0c6b41eea CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fac104a-bc5c-47a7-86c1-a797f9326668 CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df319dd2-a809-4f58-976b-722320a11477 CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d857e75-e342-4b41-967e-7528d3ddfd6b CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e419afb4-2798-47bd-b106-097967296113 CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da92d208-a79b-435c-baf7-b0bc3a7e163b CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772bba0f-acd7-4011-ac6e-80f02acd59c0 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a25e928e-1690-4aeb-a442-52516ec9f9ef CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a4b3fd9-1ef9-41d5-b209-34a620017b56 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb53658e-dae0-4d03-8dc7-a056ab13e86f CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb10de0e-0647-4437-b963-a04a53003738 CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 575e0991-3cb5-41fc-9244-f94f091eead3 CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b172b2ce-410e-4eb1-87d2-213e5b7c524f CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b3311fa-9fcb-4151-8bcd-2bf88867d6a6 CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46969a29-5a25-4678-8f58-9ddcdd7cc20a CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e8b4b59-bb51-4de2-af3d-73208f7deca4 CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62406a11-5cf3-41c6-8a4b-535eb2db5bfe CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0af21e61-72d4-4a2c-9548-841a969ae8e6 CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605c3d9f-aa08-48a6-afe9-7be9322f7b5e CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c184affc-c01d-4b38-8615-8393fb29907a CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2168e0ff-b892-4302-9f03-d78617da1556 CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1c18024-6184-4975-8b85-707fa9f988f3 CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9c6e30-00a5-445c-a036-26af0f785633 CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 220cbddb-7fc7-4875-abb0-3ec46e7ebf04 CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d65e7b-ea86-4f88-a3c2-e0d593a7c7c4 CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe7b2a0b-6b20-4840-a8bc-d01a10fc77ab CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea1a822-5ab9-43ad-84aa-1972daa791a8 CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85536d92-7c5c-4d0b-8558-11429d2f78ed CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc2a1e06-a90d-4574-9722-8e30483cb30d CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e5c7b28-cf66-400e-96d9-d9341b82fbc6 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb9859e-1e8f-430e-8628-4a2659099922 CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f631fe50-0b71-4197-8b77-f47a2d4de8f1 CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1190492-5597-4d78-81e2-ca814fc7944f CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce44d068-d66f-4115-b18f-4ebdec7b7550 CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b69bff7-1128-4be8-80c0-ebc151cd6ccc CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a475c95e-6156-43b2-8fe8-5c60a06e4a4c CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47fd58b2-dd60-4770-bc0d-6f1b5d22466e CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b305150b-9e76-4bf5-824d-9ffebf210751 CLINVAR:250954 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a2a9cf-6ea2-45c8-9ea1-d551e0f3fa56 CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06c983b1-2ccf-4e0f-ba96-bbaa3a5c43d0 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9198c5d-438c-41fa-a101-da88fddc2318 CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e5187fd-565e-481b-9efd-77eeccfc59b7 CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b66d80eb-0936-41ce-b67c-02cdbc21e7ec CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 773cebb5-e144-45a3-98c8-ea284d19149b CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2821b0-4cda-41c7-b588-3e161a6c4c5a CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1fb13e5-623b-420b-af34-a34a5e0bb967 CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4ceeec-0d04-4461-a474-38a9252763fb CA1244346 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcdd819f-baf1-4da8-8bf9-6e2081ecad33 CA1244346 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2569a061-5d49-4888-8d26-3dfeb1db96b8 CA343720163 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 799cc54e-a3e3-4649-880c-eb6e8aa74e70 CA343720163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffef44ca-8a1b-40bb-ad0d-881fe0d6bcf6 CA343720077 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b75aeaf7-f784-42fc-8e23-80da4c801309 CA343720077 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e98707-84cc-48a6-861b-ee7d7c55b202 CA343720226 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36f220e3-eaf5-43ea-9c53-6555a3428143 CA343720226 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 312d73a3-9bd4-4a7b-a670-24cde87c34ed CA343720151 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 824cf1cf-5e12-4897-9dc7-e467554c1fbd CA343720151 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02355ea4-928c-4b9f-ab53-dc095b79af50 CA421938891 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05d75601-4602-477b-a1e7-6fb0bef0dc2d CA421938891 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e372ce9-b275-47b4-b75d-b6d170f305c9 CA421939550 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a7e7ea3-c4cc-4591-b8a0-55846c134845 CA421939550 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c548987-be84-48f7-8e2f-3163da9c9ace CA421939469 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4081674f-562c-4ebb-83da-573825cb5888 CA421939469 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb0e030-2576-4dd6-8515-e08005f048d9 CA1244262 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 348c1d49-775f-45e5-bace-4f4995764f96 CA1244262 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a06c818a-fa26-4902-a3b3-2be996331cb5 CA343717998 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 879b5ea4-b40c-4f9b-9b52-42a7ec1f04b2 CA343717998 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b402a6c-6db3-4874-b4f6-7dbece976b0f CA343726928 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fe3d565-d541-4456-8ec5-d725ae914793 CA343726928 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d179532b-991e-4b2e-95df-d7e1338954c2 CA1244332 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bea64c8-dc96-4920-bb7c-9fdb22b928a3 CA1244332 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a7503de-937f-413c-93e4-8e28ac72d0e7 CA1244294 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0afdfd2-cee9-4467-a5db-7b738bc2eef1 CA1244294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed699d48-00fe-456a-afa7-7aca6cd3fc33 CA1244266 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afe5fe6d-6ca1-4cbc-ae5c-bb3ba2e95b33 CA1244266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761078c4-1378-470a-8996-a27ec5aa9ebe CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1ddc5c5-7db4-49dc-8c57-8f3511611fae CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee2d231d-5c23-4b24-a5d6-44a7281a0afd CLINVAR:986458 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26a0e5d8-2405-415c-bd0c-f2685f6f8a00 CLINVAR:986458 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98869f46-51ff-4a4e-a907-68baab114e0c CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7e1227e-ae3b-460a-b486-9c436d30da47 CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed94e95-1281-4153-a32d-12e80cd3f528 CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e4708b1-00ba-4c16-a821-fa18c9bfc096 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4a55e9-e2e0-4b5d-977a-1bbcb57168cf CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e612934-faa0-47b2-aff5-416a86fa27cb CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de59dc1a-2faa-4604-8a38-88184dffaf75 CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b420c93e-17d8-4d9c-ba93-0572eb8c3faf CLINVAR:986454 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1bf5d78-463c-4423-86af-3c40920cb423 CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05cb6e98-0c78-4951-a305-6ee173ba4393 CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8844a489-10c7-4566-9b69-6dee99fa54dc CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63b661b5-6cc2-445d-950c-f732dfbbdca8 CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d9e3ca-0a47-4529-949f-a55445eb1615 CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3392377-ca5a-40c7-b5a3-d43cc0951108 CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a05a161-98d5-4ee0-aa91-3bfd857ab1c3 CLINVAR:432427 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc376cac-5148-4c1a-9f49-72e19501a6d3 CLINVAR:432427 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43409577-ccd8-41cb-a7d5-4b484e5c67a2 CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fedd8d7-58ef-4e57-a941-317a07e1f38f CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910cac70-a346-444b-a438-2e6a6f47df36 CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 484c7bfa-e656-43db-9b73-32df31885291 CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e99ee0-d10b-43e9-90f9-cadc70bbc3b1 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78959d05-9590-447b-84aa-44da73f17c59 CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c66433-fb26-45b4-9447-ce510c3d12cb CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 317cef1c-911f-4e4e-84fe-67620809ef6a CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00823af1-fd97-4f34-a4e9-2a9fe9f511e0 CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6adf1523-a7e1-4c0d-9d33-9ea3a95022de CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7975aaf-4749-4b2c-a096-0f7ed7b4a4b3 CLINVAR:133026 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1021efd0-1940-4628-866c-c7d0f47b3357 CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3b5f74-826a-4539-a517-4fd1dff55da0 CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d453089-7009-4510-a139-310aabdc26a0 CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031a8b6b-ec0e-4ceb-926f-7595e0650aef CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93e60916-5d59-4f3e-90ac-f15c4a0f2356 CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489d89aa-be8e-4dfc-97c0-2e3433412b12 CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0716bfe9-2513-4c91-9d72-49bf5e5e5d86 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a08496-5639-498c-b858-960a770de6ca CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a65953a8-7803-46c7-9712-64f8214d0000 CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc1779b-425e-46b1-932a-b003c5c3c61c CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7d0c685-1a4f-478a-8a74-3d02294e45b3 CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0664ff-41dc-4a5d-90b1-763b3399974c CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebc44bf4-750f-445b-abaf-95df39263439 CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8baf84b-f997-4f70-989c-9e8ec121746f CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10d0d76c-a437-43c2-895c-75117a5b2251 CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4bb841c-3e40-4f78-acbc-77ae149ba527 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b9198a8-352f-4009-aec1-f60afa12eed1 CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 130bfac1-240f-4bc7-8e78-669b1858e4df CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88c4d30e-8055-483b-b10a-72b7439e7ba0 CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cd2060-7f9b-407a-a88f-dc6f2ba47f7a CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5ea68ce-d155-40e8-948a-e2e00cec865d CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ee4384-aaee-4392-b426-f224a9b06d26 CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8be94254-69d9-43c7-a334-61c2297f3216 CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b34b15-c7cb-4d95-84fd-942aa6f1e077 CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c12535a-4787-4f14-a344-68882d431c31 CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a96c36f-6b4b-4aa0-9761-5446320a631c CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81524d3e-6176-4ccc-bec4-254baf8f4475 CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6aff06b-240c-47bf-81a5-6402df7a18f2 CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce990bf8-781d-4e14-a6c5-91d54fa22dcf CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen decf41e8-e684-4710-9b93-ba90cfdd40e5 CLINVAR:188786 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c73d71ec-7d6d-4636-b950-136bd48518a5 CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d87e9d1-12f9-447f-b64e-cc3a59a8fd30 CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79de01a9-bf82-44ef-a609-bf735503c7ef CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b0dcfe-6b9b-485f-900f-7942aaf7cbac CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d728986-2c32-4ad7-aa2d-93c71c682cc6 CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de5e702-4f16-4cbf-8b3b-9f2a42c8a47d CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 871bde09-9c18-4d9a-a735-5bf309cb7153 CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b430383-a4e0-4039-a03c-93aa463577a8 CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bece5b6a-7a24-4110-9899-9a098d9a55b4 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a91db9e-7ce1-4b2c-8371-6e1fc2cc74c0 CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25c7deb2-6e64-49f4-ac35-12ee7ac2df6a CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c41a055-2cd5-4786-b625-d0a8f4a3151b CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac5b3159-ff71-4cd0-a002-7adf82ff79fc CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f1847c-73ea-452e-9f3d-8c4cae588400 CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 065c7b6a-c5c1-45c3-a528-7eda9fcc9650 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fac8b5-de40-4579-bb44-7c1fa673dfb2 CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 195e7122-a962-4a7b-b461-d97f36cc8e29 CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74b1cd0-6021-4b25-abb3-bc28ac077115 CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ba2d17c-3518-420d-bab2-e4fca43a9a66 CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0278a955-ef2c-464a-9e92-aaea1975fc33 CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a241b00c-fb7a-444f-ae29-ab0093fc98b9 CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef62686e-4aab-4b1a-9cb7-b7d251b07ffb CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 665fb822-406b-49a2-b284-a1343ed578fd CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e56abb54-f2e0-4b8b-bd35-cf7790f79c13 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c23a876-912e-40f6-8a96-a28838ed7c8f CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8dcb99-26c6-4114-834b-3f4a7266c629 CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15407917-d0e6-424e-9465-fc2eaad353e0 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285784ba-9c7f-4913-a890-d913ed6c418d CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4634b507-4551-4d21-9592-655ed9f68cf6 CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ae9294-6bbe-4e35-9396-a34b6d14abad CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a1011c2-5d0f-40c1-821e-b283e51a8ea5 CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3227a0f-1ac3-48e7-8b7a-ccf1298bfc3f CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ceaf649-fffa-4c8a-b49e-36e3a3f58615 CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5529b30-c84e-458c-a51c-0a3d90d7f99d CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be0141bb-9517-4591-9af8-2e9d051306d8 CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65882ac2-8fec-4211-b7f2-b9f032be118c CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b21c5d2b-9751-4643-8fb6-3ba8e8cea503 CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ef4ebe-a31f-4819-9d22-f1de068eb6d1 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b5b03ab-190e-4136-8af7-787aa398da61 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57347f85-1206-4229-86d7-26b857e000d9 CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6253912-f795-44f5-bbe2-d947274199d0 CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be35dee0-d619-4c35-a88b-b47b32aa33f8 CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b3c0724-bfd2-448c-9c24-c66eecc04c32 CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0c2f7b-81f5-4841-8cb3-65cec7dd4b95 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1df5e0e9-25a0-42ca-b3d9-008acc128387 CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9749730b-78e8-4cfa-abc7-f7653fabf8c5 CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 635b0b7d-e0c5-4f79-a2b8-816dd7d25595 CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4b4290-a25c-4524-b051-158f53a34e6b CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b346072-4f58-47f3-8497-d4595b95d8d8 CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ab6569-aa81-464d-bdeb-90a268d936be CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba3ad368-10cf-4fac-9327-90a6bea9cee4 CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52943547-b664-4814-a84f-38c8c7615e0d CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ed08608-ea1f-41b4-805c-0e23b53717d8 CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570da357-590d-48c1-9c90-aefbee5675ac CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef7c9ee4-08e3-4c86-8fc9-34c2dc4698c0 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a6babb6-959e-4dae-bc0b-43e859ee1543 CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e0e2df9-2ad5-4369-ad20-d64dd7e9009d CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c9d4d3-5a98-432e-9ea8-141c4f098d40 CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5580a1cf-8b13-4805-80b8-71d7d0af2f43 CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84c71f0-0b40-4a4e-ba7b-bde2b531bb0f CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 097d9fbd-770c-4d10-8556-bc550fc429ac CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d2b1e9-c708-4925-9e77-01fc19d3c12d CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ae78f89-dd1f-484c-b823-cda740e9cc86 CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f41d2c4c-a9cf-4b15-a60e-06af4cfc4b60 CLINVAR:419119 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7d16452-7f3b-442c-8518-98e835a598ac CLINVAR:419119 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654dfddb-5cee-41cc-a990-b9bdde4d304b CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1daf57e-2f81-457e-b81f-6f6a70595d83 CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99d5ebe-03e6-4126-afb6-aa4aef2b1174 CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad7b287f-f79e-4965-82a1-a9cc144bc9d5 CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79359cd4-9708-4bb0-9466-6f1d02c43b59 CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31412eb0-65db-42ea-81a9-5f4dabb870c9 CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f561b3bb-8820-4361-a797-0c98e7e0e9ba CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2cdbca1-9a2f-4a9c-99d4-e13a61263dd9 CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288dc573-e72b-429a-a8df-75536a965c4e CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37283607-c5f4-4d19-831a-db05835cee06 CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 853965f9-5e49-464e-b851-ca285c9c1a6e CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a868a75-53a6-4161-8e65-4b42ba9aa8af CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6deaf624-b648-4ce2-b1fb-36b42880668e CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4effcb7a-179d-4725-a50b-ff7b8b7dd500 CLINVAR:127682 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36096a5-91ca-4f36-9c74-bc9daf65a402 CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2470265-7511-4a67-afdc-193ec6d3fc46 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5109f274-7ef6-4008-ab97-c62810e4310d CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbaab5bc-ee93-4611-a1ac-3aee0898b135 CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c905ed-eb75-4f20-8590-a567a8e95f52 CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1de55e6f-cf92-48ba-b300-717bef0714e6 CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7be9bb5-6fb0-462c-a4ff-fe4752b24e92 CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 915593c3-a5c5-453d-9eb0-1fe0e38fd43d CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97f51a6-e632-4af2-80af-5aae43da2f70 CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aab14a89-7c0c-4b38-b7ae-60b78fce7e1a CLINVAR:140783 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3fa3ce5-5cd2-47c3-b888-cfb514df9cea CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe1003b1-4c83-4073-906f-778544286bc7 CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4caf155-c180-4902-8083-7914ab863000 CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34f8a656-7f07-48fa-9ea0-6e28353c4f1d CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66393e93-5bb6-49de-902f-b483031a3b04 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a016bcb5-51a2-4805-97ac-de36fff1a995 CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc412891-65c8-41db-8226-f62821123353 CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 056be4e6-f4c8-4150-b130-2b38d45989f6 CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e94509b-68aa-4500-bc97-9740ff0e5787 CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e27521cd-496c-459f-8028-63606eeb7218 CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b877320-a0e8-4260-9ce5-d37776c50b98 CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d273f1e-5b6d-4f9b-807c-62ab356d855d CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c51bb5-3607-4d10-882b-c5d198953264 CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9396e6ef-a462-4a7f-95ff-aca3e2310ad4 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1da171-575a-490e-bc54-377a5fa0fa80 CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ca73373-999a-48bc-8561-d88de286e96a CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a75b092-5869-4c0a-a3bd-40c3400b5f08 CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f052bd0-e143-4e81-88b2-49919a37acf0 CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a389ee4-0ad4-4263-9b5a-e3c4627042d7 CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58e8dad6-e548-4d2a-a9f3-e2574914faa2 CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3ca0be-7bd1-4583-a581-ddc6dd69ab62 CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d7901b4-79ae-4e7c-9da5-bc08b52a04bf CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cefde43-7c99-4072-9f54-1a1899eeac51 CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2edf0d86-ea63-46cd-a475-3b7cf8a967d0 CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1caf5d67-891f-44cc-932c-5b6043134fb0 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42ba50ff-5320-4ffb-a00b-d709c09d7694 CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dff6cc6-ad34-4667-a2db-53a6399c2e04 CLINVAR:316210 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fe0b863-2583-466a-98f5-1f7da9934d2a CLINVAR:316210 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362caeac-725b-4b22-b9e6-90196c479f36 CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a48065d6-521b-48b5-a160-2691f08b0b77 CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4ef6c6-9ef3-4a35-a623-de8217238514 CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df5f444d-4065-4dfb-879b-793a8d1d089d CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b081960-d259-492d-beaf-1315f667dc8f CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3678d21-ee8c-437a-af1d-51fe6b9b5139 CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen befa9738-3fb8-41ab-bec6-23fa47250bf0 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f84a68b7-5a77-4f10-937d-7f189e9986cd CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc55d94-e431-4aee-9467-56394a468b66 CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6227c0b4-1fed-437f-b17e-5cac179f3615 CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b7e95e-e75c-476e-aba5-83688ae0a5c4 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80085eaa-0306-4996-ab5c-2c7791146572 CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5938f5-c45c-4661-af73-e7fbe368bcbd CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5451efd-b34b-49dd-badd-fa3b81c12c43 CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f996ce63-8c62-4f29-b4fe-6864b3acea90 CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6d5983f-4688-4897-adfd-5f7d24334580 CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff82c582-305c-4e20-8738-b0f95354f618 CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 765fc9ef-e7ee-4ea9-8998-8f10b1c276ca CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b33d28-6c80-42bc-b481-8f2195ddd5f4 CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7db6cd0-b054-47a0-836f-f74bd2ed6d8a CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dfd6f92-08c0-4b47-a1bd-b79295c1ec16 CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3392128e-d95e-4086-b5db-312bcbcd3d88 CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c43d9184-3a8e-4805-8ba8-3577db2a83b4 CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0691b7c7-26dc-43d2-a934-10a661a720ea CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07623eb3-29be-428b-a432-b82c5863b6d2 CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b21adc6a-bbb5-417f-8436-90f28f71f0e0 CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b717a34-79d3-43ee-aa46-a1154e3f8078 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b91c3132-3947-43f6-9233-19a60edbf5e4 CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3860b1de-bdb8-4185-8225-11da66e55eaa CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 679b873e-ad66-432e-be95-0604a6bb5e77 CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4e753d-6533-4dbb-8cb6-c661ca5248bb CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b8184ba-4b58-4727-8099-18582d0df6d2 CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b01adfa-0379-4159-8650-bcc812cd3319 CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 531c95a9-6977-481d-9748-491379f4e1ae CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d4debb9-757f-47b3-8767-bab9b4c9acfb CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 508195ad-8da4-4c82-b40b-aa646316fa98 CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdeabbd2-53fa-43ea-9792-2f1c72a306b9 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8402a1e-7c7d-4296-af26-bf4b72f5bee6 CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680420b9-3d42-4045-9259-0f1a725aa894 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5ec7cd5-9362-4f11-85c8-cc36c2ac26ec CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a041a22-80a2-4284-80ab-56069115cdd5 CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8757a458-a042-4d44-a45b-3c11f88964e5 CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1d20e53-f2f8-4d25-bcfc-7c1ab9d3567d CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c64ad21-634b-4ce1-8d89-b5f78997c922 CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b34bbd-84a0-4d47-88d6-1969b0e7818a CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b626ad5c-3b55-414a-b0a3-d6783a6848d7 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdbf95df-b6d7-4654-8f54-d76e181550e1 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9b2974c-31b4-4c40-a83c-7ada9c3d0d0e CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4d1feb-6c0b-460b-86d3-695aebf37f94 CLINVAR:664123 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26c351ea-3034-4816-8c24-bab280cd7fa5 CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec85010-5d37-4454-ab95-6cc99a81027d CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 668ff312-0021-483a-94af-92823e82317e CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b9aa31-8c8b-4037-8a8c-4b2bf4ca2ad5 CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cfa3738-fdfc-4174-98bf-339b360004d8 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4601f4e9-5c40-4d0b-8535-0e7cda90edab CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1d8c070-6bf3-4536-a26e-18254cc92450 CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d0f1dd-0f7d-464f-8bbe-82a65d12c623 CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dfda151-d7a3-4c4e-8cae-c45df6a6ff50 CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea23631-6ac8-4457-8ede-b7f89e4dd8ec CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f1305e6-70af-4bbd-9aa6-1a5019464a50 CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e10746-de8b-4c33-888d-24105d52d65c CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8fb297d-4a90-4ac6-bcea-003d9b74b2e7 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867af31f-2874-4e19-88d4-18cdc13f99d1 CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02fa84e3-1436-4262-85f1-7ffd701483c4 CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f7ba69-409b-47bb-b63f-dcc33a8f8a9b CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b8d8001-0664-482f-ba79-05e1d36b81d9 CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44de106-e7c2-4d78-afaf-488e6be13adb CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d979318d-aeb0-4297-820b-e03a6b4cb581 CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a89ac6f-880e-44a4-9d55-221ea0ed6daa CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25db3bfd-8719-4bf6-b262-6fee5c51db6c CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e832e76-0ff0-4b57-b4a2-9a5b05d91b0e CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddda43c7-136f-44a6-a511-92d6cd5e9dc4 CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen face5022-d465-4b66-8571-608c7566b239 CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 792f756a-c738-43f4-9758-f721da8055e1 CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57761245-7ed6-414d-b9e2-b3df5cb1a4a7 CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36c02c55-bf72-49a7-ab6f-d0005aac7a08 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3d58fe-4ce6-4810-bb62-09d43f0df46b CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79994a1f-f3e2-43c2-95ce-ec6915f8ecd4 CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df7fc5b-a76a-4a2f-86ca-fcc2e322d84f CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bba828c-23dd-4960-83ba-e8e33ef2b779 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9028be1e-c1c9-41b4-a909-b82b73ea51bd CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 880527b5-6d66-417f-9c94-5989bf3279f5 CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa1881c4-aeab-47f2-803a-1cc7df395479 CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11c00563-830a-48fe-a36b-33e09dd524eb CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840bda2d-01fd-4050-8735-1415e91a13e7 CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ecfc659-2b6b-4f65-a6f5-585324f1c926 CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a95785-9a8c-4bee-92a6-5e9ff0e77f17 CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b2f1cfb-ffe5-49f3-aad9-c87cb47f50b9 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b8db64-05d3-48a9-be23-4879e5e640ec CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1478abba-8b00-49d8-90f2-7a916ad407e8 CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23fa81ab-ea76-4437-bfee-57cec5960542 CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 336a4a44-5a60-4c51-8543-69eb8c69e644 CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d26441-2b96-4f39-87af-4212004b74f0 CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10ebbd87-9d5c-4b6e-86d3-b36008d92d23 CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8698c2ef-980a-4de4-a4d3-a4360aed55e0 CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a9a55f5-b7da-4d1f-912d-7912a8e8451b CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3fce8ef-7030-4eb1-97ef-4d2c0ceba8ee CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f2c4e48-af88-43a0-8f20-4a3c550a11c5 CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea5c4f7-0267-4684-8d00-450be0157065 CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3df00e8-9137-4e71-98d1-bf6e932a7e73 CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3e3550-028f-4d62-8601-3f3645a13b24 CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80bb6c88-fa8a-495a-ab43-2bd79bbb7706 CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55466f25-b4a4-4888-89ea-bcb4024913b9 CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29c3a3b0-2503-46f2-846c-36a8ca065e04 CLINVAR:986472 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c6cda37-7530-4ebb-80aa-f835203b52e5 CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 655049a4-2af1-4458-b8ba-05c6ff1366ff CLINVAR:9632 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36cde1b9-9c07-4b7e-ad8c-267fac2fd051 CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d323d7e2-3154-4acc-96ec-90ebbe6512a5 CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e1255e-09f0-4538-a90c-0df1086d860e CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47c2a4f7-49cb-499a-a6e5-c3e6a2ef93ec CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec65cca5-9a36-42b7-b697-eb8aa2268a4a CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96bf5958-1b9c-4f6a-8866-674fd71f5b64 CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d137fd-6076-4150-8be0-95fe251fb80d CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a25c68bf-7219-427a-87ec-2cdd54510326 CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e6321d-e7e6-47f6-85ed-dad7cfbf64c8 CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6edb184-43bd-4e6d-8f56-abb10931af6c CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9228e92f-2d59-4f89-a7eb-1cf58072d1cb CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 937e04c1-2193-42ed-8acb-9f5f917df1d8 CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22afde9f-2309-4f28-9bce-ce2a39055eda CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74cf324c-4de5-45c5-97e8-92b8059b5a7c CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3633d9a-8d1d-4c67-9283-83cd3b8f72b6 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85c8fddd-44ae-4d16-a7a5-1e069dde28f0 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86350f19-02a0-4c94-962c-8255963d06b5 CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ad41742-82d0-4b36-ad7a-2dc4d56c7a98 CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd22e226-deb2-441e-b62f-0564f0b3d07b CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91e1abcc-ae3d-4ffa-a7a6-d1470a020290 CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc12a55-4c67-4650-8baf-3ada3cd6ff3e CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f9b632f-e23d-446a-a309-1bbda706e2d7 CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2456aca2-b2b7-456d-b5d4-10ded9bbafdf CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 075f4914-3a30-4438-b6cc-94ab3984affa CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b23d487-1b6c-4251-98fe-c20951eed4c3 CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 316a8be3-6bcf-4ad2-86a2-28db3941fbbf CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7119d3f-9a70-45bd-aa6b-cfbffdb52abf CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b73fa036-bec7-45ce-9466-df9599dfd650 CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29fbeb1-01af-48c0-9e36-f1f7b8fbd525 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab48eefb-c8c6-47be-80ea-1456cec7b663 CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14b7aa2-b51c-4a36-870d-b942d2bb6213 CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5afd445e-fd61-4af7-818e-21c332a5cc19 CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb8acaa-50bc-4aa7-b73a-85b3917240b0 CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18d1dcf1-9b7f-4f89-8983-ac46b9239e95 CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a07099-a99f-4a0e-aafb-e2b2f43eed1e CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 025b58b0-e5c4-4bdc-a35b-2172ce942466 CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1dbe3d3-1002-487e-8dab-2efdb26ec40a CLINVAR:933090 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4241cc23-4134-44a5-918d-46ec0ac96882 CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625c32f2-1105-4298-a1e4-30083cb0b42a CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de5c78f0-1568-4978-8927-74fcdb49cece CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984e1747-8ad1-474a-afd4-558da88e9861 CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b2a0775-3ff1-49ca-9f0d-0581213dcc54 CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66dfafe-870d-44de-ba19-6e0a1b3bf2d7 CLINVAR:479636 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f791fe41-c74e-4964-a063-e52befb79234 CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a639c431-b6e5-493c-9fac-e7f93cd373a8 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94afaff0-85f6-46ea-872c-0c368887d0f0 CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e2711d-da38-42fe-979c-a60090b2466a CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05b0a761-fca2-4599-b735-453fbfb80f5b CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 784e8df8-51c9-45d0-b004-ef386ab872f8 CLINVAR:1722521 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e346d000-b9f6-4ac3-b905-12ce818fec7b CLINVAR:1722521 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 319043e1-d8e3-40d3-b299-df43afd84eba CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57e82a13-2c3a-4833-bb15-0b633002a484 CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432f19a9-6257-4820-b409-fbd773f79dec CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9677c4e5-cc36-4e5d-895b-cf0ffc75c49c CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3648fc-1c8d-4e61-ba3e-1e8ff9ec0353 CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36b6fdfb-544e-415d-98fc-7b8cdcfe0143 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3342962a-0e25-446f-ae5d-84a5ef70a5ea CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 722d6faf-271f-4380-9fd8-e5a0ad084fc3 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee74764a-a301-4970-98b1-4ea96f899be0 CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f09cb51-0381-446f-9c17-158e761e0c93 CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9d0394-e1f1-4dd8-9641-9f02ca80a783 CA343719476 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b286d27-633f-4207-9794-992c344d87b2 CA343719476 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df8b6b5-b049-4777-bf75-43abe56614d1 CA343727103 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5729a98-dd3f-4bf4-a561-702984f463b7 CA343727103 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3452d767-a400-4e6f-b8d7-113c5ccb673c CA1244333 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c83dccc1-048f-4543-b26c-c61c682c95ec CA1244333 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33018533-0898-4317-9513-fc3c68352cdb CA1139770939 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8fee127-b4fe-4758-8c5c-4dbb1b07ffc1 CA1139770939 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de167ff6-b918-41a6-ad4a-683aef439129 CA32686006 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6470f9b0-ed15-444d-bbf7-79696b03ade8 CA32686006 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13a70da-45fa-4d52-a697-f67a1ef1420f CA1244122 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66366277-6059-4210-b34a-1dd2a0009b6c CA1244122 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d13083-b895-4f11-ad03-c5645c139d99 CA1244196 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3161f663-6dca-403e-bf66-8d6aae896833 CA1244196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e06c18-1638-42d1-9f09-6cbda22628b3 CA343718087 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e0d7fd7-f335-4c80-b4ce-b765806d62b2 CA343718087 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bcc511-6e21-4b98-af6b-45c470f357ff CA343725043 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3fba1c3-2759-454b-a4ac-6be5835fc56f CA343725043 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cccdda-72d7-455f-8014-8101fb57c4f9 CA343724711 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cd7a4d3-6c16-4507-80c6-d34c0ac8ca19 CA343724711 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a50e92b-5b6d-495b-84ee-18b493276270 CA32685671 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d9faac9-5f8e-4169-b353-706ebd8c4ab2 CA32685671 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec0aea9-d69d-4df5-9d37-0a36aeac9957 CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f0217e9-b463-490e-ac35-8f813555033d CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e26888d-814e-4faf-81c9-b52fb7e2ba2a CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08f6c6a0-37ac-478b-b946-fdda0242f16c CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0db14e2-ef99-4ecc-825f-de8e1eb053e7 CLINVAR:526518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e62c576e-56a7-48fa-a24c-97fbbd65546f CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ea4eee-b966-45fe-a33a-710a71ef0629 CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 787dc1e1-b5b9-4f2a-af1a-8efb9157fd46 CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f292b63-d9c5-433c-84ce-2948d351970f CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11e9d10a-0aac-44a1-8da1-efd55e478fb9 CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208541d3-6939-4f66-8ade-61e3ccac37c2 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce74fc5c-e23d-4ed9-bbb6-b86dc1edff8f CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10029a0-927d-40f8-abff-c0113999aaff CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 010c45ac-2183-4200-b384-5a5a8d34d52a CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2459887a-90dc-4a99-af08-d9bd52102ad0 CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d977ce81-ccfd-470c-97e0-9ea8001c6a47 CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46317cad-bbc6-4f29-a0cf-5a06e002d23b CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12a9d5ab-2060-4bbc-9b48-e0912265a987 CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c50180-e911-4207-a30e-62ba0e6781b9 CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b4d903f-3889-4b78-990e-1abe2ad83c7b CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0c1b5e-1899-4e0c-9475-00710e20e78b CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4da0245a-c76c-4b4f-93dd-f1829ba7d411 CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42522df-67b3-4931-add1-d455415b580c CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d910d63-c452-4cba-beb0-ef592028637c CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92852185-716d-4840-897e-36f813f0f1fd CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1425df99-d447-4140-98ed-3fd05acdd284 CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070db0ce-f1c1-4e2f-8e76-9c4ebad932ab CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a78736c9-f9e6-429e-8a21-d516f3b04f67 CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe79ad5-189c-4316-96b9-0c5458f7fafa CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e966fd82-2fd9-4523-90dc-58a46f0a3e7b CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4676f6cd-6024-433a-9fbf-9710c9116ddb CLINVAR:143490 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 111f14fa-7f06-4381-9652-5c8caa3c6a7c CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0fb81b-a3e3-4bee-8bb4-4023aea2833b CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a817077-135d-4c9e-8a4b-6d1ea61d785e CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e806fb8a-d2a1-45cf-ac59-8a5f83b98f5a CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f679b03-81b6-42c0-b045-d952717bfee3 CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e634573b-7883-44af-8b51-f102c6b41d98 CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16a12ced-30ad-4617-b8d4-09a321eb07a0 CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb05af4-b145-418b-afef-d54fbf77fcb4 CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab01757d-3643-497f-886e-a4886222a84d CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2161e9b1-5222-4243-ac92-dd21ea16e6a7 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2fd2be8-f4a2-45d0-916f-c1f0b176451a CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc2bb97-07a5-4eb8-a2f8-61d613a9e1e9 CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6cba54a0-01ed-487d-866f-aa1dd3efe7d9 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c09bc98-3985-427d-ae3b-745f739c6aeb CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49b7bff5-13e3-4e0b-97c4-3a01e842bb9a CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7df09d-c0e3-4bbc-a8b0-e1caee774d46 CLINVAR:143450 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5489294-290e-4163-b49a-c8a6ad74e155 CLINVAR:143450 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c4b6ea-7560-4618-89bb-a77aef0414e6 CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 240175b6-b85f-4c50-a649-4cadab92332f CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281cb6a3-c601-48c2-8d83-c268bd865382 CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d25a499-ff4c-4d3f-b761-9c4d78b04677 CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8db864-0bb7-497b-bb04-47ec92d6cba1 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen beb4c53e-00c8-44eb-bad1-04af51011236 CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a299e947-6b5e-434e-8560-0df86e9b55ef CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5b0171b-559e-4a95-b686-ca4dc24e5cc5 CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e10abb-4a60-4bb2-9a09-f9a270ae0126 CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13a7ab44-b071-48c1-a6f5-1b222d7e81c0 CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0867a79f-7340-46a4-b14e-56e9d4b4fa41 CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06e2bad4-1d3a-4545-91ea-2390b9bc80cc CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61540d64-ec6a-4656-886d-45cab08988ee CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bf3ebb1-e982-4813-b17e-4bb7c95ad82e CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373b9d97-c428-4521-abcb-325a2a1ab28a CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84492b1e-1fcb-4dee-8337-9a4acba5fd61 CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd3fe0c-e288-4618-a75d-a5bf40ed6b04 CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68a5111d-f5ee-432b-bc1b-d8aaf2b8c992 CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad29926c-3b54-4965-9f0f-b7400393a866 CA400021997 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 431034f3-7b3a-4305-b479-5d2467ccd950 CA400021997 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb2fbd22-6b79-4088-9cae-2bd207d7b439 CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bee18a3-d683-4080-a101-d1513e59b52f CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215df652-04cd-4cb4-8b3d-3716510f4a8f CA400028386 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f71a7bc-a6ba-4d9e-a737-fd4e0a877e6b CA400028386 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6ee85c-df6f-4dbe-b007-8fa7a409c8ed CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cb000d7-38e6-407b-bfe5-b50641adc8ed CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40207532-7885-49ab-b59a-5697a50f1790 CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8459c8d9-b7f5-4b30-8178-5cc0258f8ee0 CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa3831c-8592-43ab-a3f4-97475e3def56 CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c714e771-2953-453d-b04d-c401c1d71903 CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9add2387-fd9b-4aa3-b592-e60f1092ff7a CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5d7cdd5-70f9-44ea-ba11-88f428ea58cd CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8aec59-8385-4d18-8b81-51b3ee24f5f7 CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e28d426-dddb-4757-96d8-9cd3fe88f606 CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e7dadc-c384-4c68-bde2-0c7e2c278335 CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff840bec-45c6-4b22-bdad-95598da0cbd5 CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 413af001-05a5-4765-b1ca-96f2e38ed8ea CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 839c7795-a660-4633-bf89-ef3115461d99 CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fade7d2c-1f12-4388-8782-ba1e80d22880 CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdb134c5-f05e-4a20-88d6-c69a57012753 CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921a6551-e504-4e62-b6fa-b8e1ddb9b346 CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32d666bd-d6e9-4d75-9109-da8a8b755542 CLINVAR:1703869 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d232517-90e1-410b-843d-469c41b7e46c CA291225782 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0d2fd01-ab2c-4ab2-b457-c3b6d90c414e CA291225782 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecdc658-0be5-4884-93aa-0f7cdd18ee3b CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 768135c9-1ecd-4b8c-8163-c38f694c8109 CLINVAR:1879044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17339e1a-9ff3-4988-9394-8d88d48fb46d CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39eccac6-9760-45bb-a7e6-16d4f5b3fbee CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5c5ccb-70c0-42c2-8f3e-649b3e9211f4 CA291227621 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad379f80-2ad8-42d6-bd92-fa9a453a714a CA291227621 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e91522-eeaf-4ad8-9cf4-8ad346dde8dd CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 055b7c34-3516-4fb3-affa-8f6367a82dea CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543873d2-2fcf-4742-b15b-0b556c422826 CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae824887-4404-46c1-8a5e-e69b1685be2f CLINVAR:1879040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e33c85-4468-46ff-bb79-893c1f6d9092 CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffcabae9-c107-4401-b988-e44620c57330 CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669f71ab-02db-41f3-98f8-65426272e4b8 CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77d482aa-4845-45bf-a4e9-77942de03b53 CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280e7aa7-ac2d-4c57-bd9d-2a82aa4a9558 CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d97589a5-b4c6-44ca-b6a7-56872f4115fc CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e209fa-680e-4c18-a68c-f6a7e7f437d7 CLINVAR:1879039 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 280cf0a2-3270-45b3-831e-dc2b1c997e00 CLINVAR:1879039 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27ea7df-b71e-469d-96e1-e8141a34f2a1 CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6faa8bbc-23d0-48cc-bfaf-4d9428b8122c CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce3d65f-9b66-4e80-a40a-ac37650f3502 CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8921a9f0-3401-48e5-85c5-a99623728ca5 CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb49ac87-0ea7-42a6-b0f0-e514a3ed7f72 CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdccab70-43d3-4278-979a-7b235a7a45ac CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baae153e-53ef-4ab9-a54d-5ab5bd2b428a CA290950094 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cc29455-a083-4459-9f7a-a1b37c4e49fb CA290950094 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78908b15-5f46-4066-a58d-c7f5c90789a2 CLINVAR:627151 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 065b3313-6fad-4287-a96e-d9bbd4f82bc0 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b8f0ae-749f-45c9-ac24-a33f220aa2a0 CA8603454 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 828eec39-5674-4422-a933-a17d2804090e CA8603454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981498cd-a4b5-43a9-a30a-ab8ea5a3596c CA400029961 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0430a8d2-28e0-4e96-bd1d-2f37918f5e3b CA400029961 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44975b1-ee3a-4d73-89cd-9c21e89bc604 CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 183ad32e-46a8-4318-b691-0b8270a07ac1 CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1317546-ce9a-4f74-b384-efcb7a27ff08 CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6ed6b33-0cf6-4cce-ba28-375b5e9ce153 CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fef5c1-debc-4ff2-8600-a56773778b77 CA399807046 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 992c8cd4-053f-47ff-bc2c-8631306831c4 CA399807046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39bd1af7-5380-42a8-8e9f-b3931717770e CA8603212 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 145455d8-2997-440f-8e12-0454121301ae CA8603212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea27c26-d198-4bad-a083-3bde2f2877bb CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c15cb5f-970a-4ea8-b180-470fa4bbef27 CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763b23b3-e021-464d-9648-5a3fd68251a0 CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a202c699-75d1-420c-9563-eac7cc1729a6 CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff00294-13d7-489e-9b72-00b536597fff CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7622e4ed-7d5b-449c-a0c0-8c075a8901e1 CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8269708-b993-4cab-bbf3-586d82b8f35b CA400029341 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0158097-6686-4231-9f27-90831edabafb CA400029341 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe65b90-a1a3-49d2-b796-f54d8c2459c5 CA399804316 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06700325-df3b-46b4-a389-a57486dea6b6 CA399804316 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b6285e-c842-468b-beea-69e9ab684403 CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3326f82c-97b4-460b-9de3-1fc0f77dc8e3 CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fb96b5e-b3c0-4fdb-b9fe-e49cfef2800c CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06fd03b4-770f-4844-9a2b-1a30b9fa2dce CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d4b32d-d595-44f2-86ae-fc8b20c9f185 CA400032927 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e145b96-d579-44f1-bb39-d37c67634dd8 CA400032927 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ffd9028-7840-411d-8cd6-55f52f4541e2 CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51be17c7-c1ab-4535-93b0-51e599d1b72a CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d245f9a8-0f15-4fd6-a423-fe3b2f77f90a CA915940801 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 752cbc7d-6743-40ae-9953-20540da9ad4c CA915940801 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa48eb3-9400-4688-aed5-0ae1df2430ae CA399791378 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0551b9e-4612-4832-bc2f-2641c24a5922 CA399791378 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d65e335-fc0a-4618-9512-fc66f843ddb1 CA399804787 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21f2c6a2-c846-414d-a054-e4a0dc408e67 CA399804787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc2cdce7-9812-4852-88ca-aa112a0b7e0e CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 817ab0e1-6e52-4f67-8f6b-7cd274a95983 CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c56e1e4-c3df-4390-8201-873fb0d54c92 CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b11da6ff-5674-4431-b2ed-180e2946ea23 CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec08de59-a9f6-454c-9eb5-1e802e8818d1 CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f78a536d-9b1c-4bf5-b0b4-af684ea35e52 CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d2e1d0-9ef8-43a2-9363-d30bce95287c CA8602667 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c258d397-a510-4d81-b084-ef8d662bd513 CA8602667 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b2e66d0-0a57-42ad-b1e7-8c4325eb0c9a CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93eb8d20-5dc7-4cd3-946f-3ab3705d89d5 CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c649ce3b-4bb2-4910-8f23-dc71f1883938 CA399794666 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d2fb3ff-7e54-451e-a2ba-8ad0601dbf73 CA399794666 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9afd81d-44c8-4d10-8000-76ccda6bd06f CA399805465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71d9d5c1-e761-4c6a-a7b5-586ea853fc00 CA399805465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36217ae6-2d93-4921-877c-33cfda1716be CA399805884 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a457ca9-9fb6-4c45-9d40-d420250d7861 CA399805884 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ea2d3b-3b1c-46e4-89f6-18d8c74a5cfc CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6baa3ec1-13cf-4775-bb17-6c22d803200c CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 277aad5b-4789-4ddb-9363-ac36b697412a CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 193a550c-c173-44e5-a013-e4393738db09 CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4599c0-1c9e-439b-96c1-4e61f4857061 CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b4dd14c-136d-4313-8aca-0ffb39a7221f CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381184c3-0780-4bf7-9698-5249e6c0eb2f CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd053d0a-0149-4459-943e-70387d8375e1 CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1424747d-6d14-402b-a694-550542658b5a CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8bc7120-023d-4da2-8167-c36d4d7f1386 CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19f3868b-25e2-4deb-9380-a8d8c20efc91 CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1baf00a-66ea-45c1-9596-81622319b17f CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bf276b-03ab-4d7c-b11a-f344c27f5661 CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3cd4e8d-f356-40ad-9cf2-7a75751e04ad CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f33c6a1-2433-41b4-a6b1-6e9f3a382f9d CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 755ae02f-b41d-4e11-85b8-bb50a2b30ec3 CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21b76c3-e137-440c-9226-1d8a947cddeb CA8622982 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8670ec8b-c103-4fc9-9484-59e84347c227 CA8622982 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10cfd488-4c1f-498c-b77a-fa0531e00eed CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65c2bce0-3ea5-4837-8340-a2be7990ad5e CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e348df4-5921-4630-a17e-ae982b447a3c CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48f80676-3d1a-4b35-b8af-d8218ece48f0 CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f170328d-79a5-47f4-9937-e0f867ec5d51 CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a6436c4-91d5-4751-a26a-5c86018e9c15 CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc9e91f-a212-4a7c-b204-29db2a3af569 CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1eba176d-ed69-4021-9d16-479a33357782 CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f9efaa-d34b-4998-aab2-1650fbbfc1cf CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 841e6d21-236d-49bf-9a88-b5eb434d90e6 CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d6210a-e6e3-41ac-9cb5-614e024981ee CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11645d5f-2af5-40d9-954c-6f3c33179c48 CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b613645f-0d88-4252-8b5b-8ca28716a9d0 CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39ea2e14-cf97-424c-bbc2-398c0ff38b6f CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d032861-d777-4cbb-9262-73a86789688c CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f238a15b-abac-481c-874f-ad4f19ba5c94 CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c1bab3-99e2-4258-846f-5efd4c6a76e2 CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 089b7eec-063f-4e3b-9f9c-bda9af4e4607 CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71db4edb-76a9-427f-8895-a89fd4100228 CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d3959ff-1ccb-4e19-b525-1513daa466d5 CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0202af9-23f5-4928-acec-290d812026d8 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7595b64-ec7c-422f-8c1f-d2c8ef79f437 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f723f5-a925-4f2e-8e94-418ebaad9e65 CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7c72578-b87e-4cba-9f64-8b473aeb9eef CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd9eb10-2056-45cc-acbc-925b3a163923 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89f314c1-4c92-4fc1-ae1d-9cb193b2f768 CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca3f980-0537-4e6b-b37f-3d27e8fc4b85 CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 330d5bbd-d84d-48ba-aaf5-4bdfa8f48290 CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca83ab9-d099-4387-b94f-c00c1ef87709 CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb61e910-ff1c-4754-a922-0ff081595a3c CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19931165-9503-4f5a-a162-0c0f65da2a81 CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f90eaea4-7ba5-48b5-893d-6b75e8e98e93 CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e930d014-77ec-49fe-8c56-910f3f4dd75e CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11918dea-4ffd-4503-a2d7-0f70bab94a30 CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 780a44cf-e698-43bf-a417-a230da39db77 CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b766a3e-e1cb-4a8f-b5da-5666ea2770b2 CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee21d089-2509-4a47-85c6-b3547051b6c7 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ca75da8-33a5-490c-ba88-e65b91ab6f81 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167ce806-35ff-447c-b66a-05edc1800b93 CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b66ce4c8-d67b-4478-886d-7b7add657251 CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b465891-e5fe-4add-a153-289ce1950ec7 CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86507a27-f7c7-4c9b-b3f1-32b641054901 CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9928fe0-4ee0-4056-8bac-dd950ffc0ee2 CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fea6d23-f112-4959-80c9-31650fbe452e CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f2a3da5-5a4c-4980-b077-a76eb0ebe5df CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53c270c2-58c9-4977-a2d6-26688a59f4b5 CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4be5006-be03-438b-a5f8-69841eb0872c CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abd95287-17e6-41a3-814d-3b10ca1b12e5 CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a8d321-1557-4cf0-9e13-81822b78abe9 CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f209fcd-3da0-4c4a-a633-65df1193d14c CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ba86a6-5af7-4542-b22e-c5576769f01b CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da08e903-3a5d-4a2e-9fee-fa0a71668dbd CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f22d7c3-5964-42c6-a843-b104c1712dd5 CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72175271-8d46-4b01-9795-05b74eb2c371 CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9998751f-a398-4233-8abb-7e5ece14054b CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36d56f79-1dc0-43ea-966b-f1145cc93c5b CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a44c1d-58aa-4c6b-9efd-5351458ea41d CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b8a77c8-2920-475b-bbe7-ffc6a51d23a5 CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e766e7-8d11-47f4-836f-f08b954d9461 CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecc1bf21-2629-4065-83a9-1230c26ec9c1 CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e93f9e0-d7d4-4869-90b3-79031dc52d6a CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86293777-a711-4b68-86ae-e26cfb2dabec CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e68469-74a1-43bc-a02e-689128e0689f CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dea55c5f-f96f-495b-bd00-4beb7565e1df CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32276927-7540-4e8a-9367-dfaaf94f5e88 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9c47134-6bfa-4817-be24-6a145f9371ab CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b1dab5a-06ff-4c9e-91fb-dfd46eb49469 CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7380aa43-9a5d-47df-81c6-e379ba430cea CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41cd9d16-8c1c-4fd4-a6fb-ed21901b897e CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a70fe22-71d7-4296-b6e1-deeb49f3df65 CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea94df7-f2e8-49e3-8498-77726d94054e CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 545b625e-5213-4f55-b846-c365ab60e3ab CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ee99c8-77a2-4e3a-8ebc-142bc93794c5 CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7717499a-4a34-492c-9b2e-90422e22d29c CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d4a2f95-f690-4d68-b555-e29c87630098 CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c70f225-d8a7-496c-a9ac-cbec1e174037 CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d6251c-4e18-4bb9-a166-a7a9124cc913 CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c4a9f82-b4a0-4870-b727-a1193420d1c2 CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2c1640-8032-4481-8533-b28d7d067259 CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 933d9e7d-92b7-4ce6-8f06-b70a23fa1a62 CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055aad9d-ec18-4f92-8421-b475a882cf3e CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75df395e-84d4-4706-90cf-5ac56dd05171 CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da2ad999-09b0-432d-8622-6709cbed83f6 CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adf15c02-4a18-4a9d-95db-a5d421062b23 CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512afce6-d153-4372-a3f1-0f86f7ac5472 CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ac493a5-fa9b-47b7-9997-98e281a2aee3 CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f434f5-8dc3-46fc-b1cb-915cb8cabd6c CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35ea21fa-ba86-4f6f-94f2-3d74d03fa0d4 CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4a33c5-76f7-47cf-9750-0b98d6bdd9da CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd26eac6-e3b1-4e53-8633-c0833c79684f CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbac7d1c-2cd1-4a2f-af33-b869a96d7c00 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea8f8bd9-0ab2-4bd1-b7d7-94c6bee26903 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61faf0e-d398-4e2e-8c75-aa77d0e7c7d4 CLINVAR:876022 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83e9f0c1-2631-4081-987d-8532bc558d6c CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab57c6d-a857-4ea6-ad8e-c12da8b312c9 CA1244128 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87a2499e-8e8f-46e9-a5d8-95a2dc0b7e5c CA1244128 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b549c6f6-02ee-4d9a-a238-6635df0b1030 CA1244127 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 675aef12-89ea-4491-ba1a-1eefa2c4a822 CA1244127 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31f1c68-8a28-4001-8b06-fcaee28715bc CA343718468 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 520f9f01-fc1f-480a-bfad-80cee87af4b5 CA343718468 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45036947-b8bb-47c4-9e4a-a91e8195e2c4 CA343724789 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 423c7345-ef43-4be4-b8f8-4e17c529e619 CA343724789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3c32d6-8b66-46f9-a662-e3c082a2d27d CLINVAR:1306862 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3472e0c6-089e-4ab5-9f4c-907f0afeb34d CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 634d15e4-3c69-4af3-9a5d-b3f1e779336e CA343723649 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db638ce2-7076-43b9-839d-d5110a0721f4 CA343723649 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4f3430-0f2a-4e9e-8eb6-ce5f6d831eed CA343723635 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 113cd5b3-892c-4085-a62b-be4d592a7eb8 CA343723635 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321944c8-e402-4626-b94b-9a36f70700e0 CA343723062 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0e8adfc-859c-475b-8545-6feb9de46a1c CA343723062 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d749b08a-5dfb-43bb-8c82-7be37a629aa9 CA343726243 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0a51073-b049-419d-8456-4d724e89c1ea CA343726243 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f549d967-5aec-46b9-bf1c-3fade370e90d CLINVAR:1684936 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61b41649-4339-4852-8c49-90df89788e7b CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f148fe22-e927-43ce-b5ae-33583a306fb1 CA32686185 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27a03a32-6013-4879-b0d4-a0c665cabaae CA32686185 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038931d1-6d52-4a34-8654-38633cc90614 CA1244138 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca08886e-33b7-49ed-b337-763d9b394e1e CA1244138 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00eb090b-1357-40bd-8874-71dd386301e8 CA421938611 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b97fd38a-a662-4065-9ad5-cc4f232aace2 CA421938611 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c66c232f-e472-48bd-9b31-884d23c36ecc CA1244109 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80b0d5c1-adcb-4536-ae55-a0e88b5c1ce1 CA1244109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd3a863-2092-484e-835e-6b324da3550e CA343724974 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84799380-f412-49fe-9114-c86ed8ed7663 CA343724974 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedbcfd8-269c-4a25-b59b-e76747c355f7 CLINVAR:7957 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bfa4dd3-b0a9-4ad8-8c6d-00bf774640f2 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c4c407d-a914-46cf-8cb3-2368dd216d87 CA1244062 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df7f8840-2a8c-4d26-a2ca-54d89c3de8de CA1244062 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0edf68-9c5d-43f8-9df7-82a7fd71aadc CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 314c45f2-b06b-4662-b65e-a2d6cd0ff406 CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4926556-fed2-4977-86dc-654ce400dcce CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen faef0527-0bc1-4617-ba28-cab51f68e178 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40be227-35c8-4efc-8f19-bf81346024b4 CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8b25d11-3bf9-4fe2-b08a-ccea53b1bd86 CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414fa8fd-fa1d-4d86-a7e9-5097df1daf9a CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71ac717f-8a03-4552-91c1-fd2763f367c4 CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44a3282-6b53-4384-82e0-304e762d2b8c CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8dd0ad52-aa62-46d5-a0f7-3af775ae6d6e CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c7dd8f-5198-4293-bc4b-35bccdab8915 CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91657cbd-21fd-4660-a2a7-00bd2cbc7dd2 CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320951aa-f49e-4de3-bfd6-48a9927afc2b CLINVAR:380058 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e6557ad-e618-4014-a60e-84506f3bd674 CLINVAR:380058 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5d516e-e9cc-4ac6-8b50-33c8062fb894 CLINVAR:516249 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd1adb6c-69ba-4620-ab87-d4a068b06718 CLINVAR:516249 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27b86ec-1edb-44e1-b809-e3c1d592f113 CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2268acc3-34f4-44a8-bfd7-536ea50a4a24 CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be12c84f-519c-45b8-bcab-c589cb97c654 CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c884cca8-297d-43e7-a900-38d09f8c0e6b CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d574edb0-62cd-4752-9563-4c92b0091d76 CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f9baa99-6f34-4f78-af2a-32db9a655f6d CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23fc2c32-0bd8-438c-8f1f-e7c15f4b4668 CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb1d6757-b350-4d07-9c5c-a833f99b2dce CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f75b55-283e-4030-abd9-370003fbd131 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63f08b6e-c786-42a3-aa7d-6d247e69ab8a CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5ad805-4aea-476e-a2c5-e6ec6802cb88 CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cb6a771-beed-4ee7-bce2-9d65d541c8e8 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca47feca-1d1d-4fbc-a28b-78ed86b338d6 CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e708c69-5105-477d-a107-2f0050230575 CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d8a2f9-e702-4083-9c54-23c1ab1f88ba CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbb2a855-c7f9-4728-ac50-02ffeaad2e81 CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f55f8b-df4d-414c-a3ce-2101e26070a2 CLINVAR:972747 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64a8363a-9f58-4680-87c4-591f08c43a3b CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c0c581f-baac-486e-8f7d-5958aaacefb9 CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbf12698-d3df-4b07-82e5-2f118d9b056a CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328a2134-b4a3-47c4-9d2f-410c5244bff3 CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f5994b9-8a89-4600-89b2-0ca6ecee075b CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6880a1b7-28af-495b-8270-a5f579218e0e CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e46e121a-ab47-462c-b84f-9119ac5ed700 CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb08cf6-137b-4056-a5d7-ba5004d552ed CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04270a6b-b2a5-4b77-b381-38d3858f7477 CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be52b9c9-7b0c-4450-91ff-6d1fb7734ec7 CLINVAR:283230 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88e6399a-362d-4546-9b48-a76596a7b73a CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5fb2e3a-45a5-418c-8639-576dd2c0eabb CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cd3913d-a30f-4e92-b9b8-a31c7b335047 CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce026586-e654-4839-94e0-c2032ac4780c CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f75be742-926c-42fb-a402-0ab01099646a CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd6fcae-733c-4aac-96de-401e715f33af CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f6594bf-ed00-4dc3-ad5b-7ed23a1c9af8 CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08dcdb9-1865-4c8f-b4f9-fe633ad198f5 CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04c9bbe8-e6c4-440b-84f9-19157e62c8cd CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9208713-79c2-4ea4-a6d7-aaaa88b4de26 CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f77fed9-2f2f-4f16-b9fc-35c19d2e9265 CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab7f0d1b-0407-4d66-b703-7617a0a713fc CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac99fe02-aaa4-4de5-ab78-5e3c986e406c CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c9d4739-9195-415c-a351-a38a45c83225 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65a67001-0f7a-46e9-9c4e-d2423e9483e8 CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1939ece-e678-4612-9710-1f1008eba610 CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e541e137-d8d1-4ac6-869e-fc3e02299117 CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0baa8841-9e3a-4a58-b8f6-5494f606e31b CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6dc1f6b1-f61a-4d1a-9cc1-27a83865ba29 CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55189036-3c38-4d4e-aad5-45c0afdf66b0 CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d746a9bd-9ba7-4057-b2ce-190529813700 CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6db3496-8043-4102-b26f-28c048cb7a39 CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ebc889f-2441-450f-ac01-d5cbc7a23a71 CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9f1703-eca5-4d88-b870-2477ea7d7a52 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c50711d9-0254-49f0-921b-a6bea87daaeb CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14a9b30-5615-44d9-8970-6a62abb7ef92 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c594ece-183d-4f31-9b05-bea5aa64f125 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3e49ea-df1a-45e1-9905-c857383a55c5 CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7532d92c-1b31-4f9e-98ea-3786f52d2f87 CLINVAR:430743 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287fd00e-6161-4e68-8fd6-e1d1ce6e1c6d CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 346b3293-659d-4d37-aae6-694649d34b35 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d237ef17-7cae-4838-82d9-f6ad615f0f90 CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ffbeb12-a801-4b91-921a-307e4b8d08ab CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ce4dea-6828-4eed-95ce-d2b7ec1482d6 CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94f66d4e-6d37-4688-9a5a-3ed94d35a59e CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3ff388-9724-48f7-aa23-5cb4e77aca78 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0cc52b3-bde4-42d0-9876-40e0569cabc7 CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49471f4f-0f29-486d-9eac-8e21df92f1f5 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fd8df19-e58a-4426-965a-839da7267917 CLINVAR:250946 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27198512-040b-44a9-a6e5-1f04ccf6e0c9 CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d844743-891f-4884-903e-c5a604ba3151 CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a4307c-c9b8-46cf-ab36-d625a0a62c5a CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 355ecac5-cbb6-4c72-8e40-d029d292351a CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11bb2fc8-2cd3-4565-ac14-03c272d0ec74 CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fc4a2db-cb08-446e-ac35-dfd7ad83cf3c CLINVAR:403628 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c770d6-dbad-4556-b0da-4393cb590254 CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77c3431d-bafb-49fb-bfc3-1fa85fa8576e CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49af4c68-23ee-4fe1-a467-d102b4823ff9 CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d56e366-e83b-490c-942a-525a95f5515f CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0ee807-ae83-4d07-9d8e-495395f2696f CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 414d157d-5032-48ab-a427-bd590ee902a4 CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b3b818-dcc1-42b3-ae83-2887dbe31e1b CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fc682f0-6284-45c9-b757-e76212739eaa CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb1c2da6-a55a-4f97-9e7d-d57acde71db0 CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58c159ad-a484-4f11-a76c-d7a5f3e0f541 CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 615fb915-784b-43b3-80c3-39386f284755 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a342cfd-5147-446a-b46c-f5888aab4e13 CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae71d9cb-54df-46bd-9ba7-1f1ea34ac016 CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93ee9700-a408-4d2d-84a2-6a36b063855b CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31aa133-fcbe-4c41-83f0-b39ae9740fd1 CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf4791b7-6a01-43d4-8246-11d4fe852ecd CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ee14a7-ee32-4075-abd7-ae3a333a526b CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7255d09-43da-4ef2-9fda-66f7f638b63a CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85fc249-0642-437c-aa03-338fc58a3411 CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c52f0cd2-154c-499e-9b20-62bfe4a4d93c CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a4e754-6efa-4284-b818-3d12a709593d CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1b00ca0-a0d8-41ee-b548-21da543272f9 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c0c7d4-8da6-4ba5-b6b8-0d609a7e2ca2 CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d471a62-b0e7-4713-a066-1fdd7cd24a46 CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743922f3-3eeb-4bea-990e-ea71d7d74831 CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1179183d-346b-47e1-ad5e-5c18089a4a83 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58c039b-5390-42c4-a8c1-f7493d4b2d6e CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d809efd7-167b-4345-99bf-984d8d62bf68 CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec28aca6-f11b-4cc3-969a-a0dde7d89a66 CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 020ad659-df02-4fd5-a7b5-b1db5ec4c4b0 CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c51161-64df-4480-8815-757151643088 CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a9f03b3-0473-4065-9593-646f85878641 CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c32459-878f-499d-a2ab-f5d9b80dbf9a CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ff3dc72-e855-4212-97f4-5fcc3e584770 CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e86e7119-7e34-445c-adfb-ee30bcfbcafe CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fc61c38-a0e0-4c81-8f9a-71ff7e7de63e CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4eb3fc7-5766-43df-945d-eff1bf82e6fc CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05af482d-3389-4c5d-835d-7ede336a9c6c CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7d38bc-6d2e-4e41-91b2-2ea38369266d CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4efaca9-e28b-475e-a0a9-06dc0b9bf1f9 CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0327f80-9677-4634-8886-93c0b3b23ad2 CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d7816ff-770c-4c00-bd72-9fc0a7142c3c CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fde5b25-4f55-43d2-b886-4b09c003eac4 CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceb0aee0-df90-4a0a-84bb-535dfcbce0bc CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de52f203-7de4-41a6-94eb-c69d17d81b98 CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a9f8e64-245c-4725-9b51-2a2cd27d97d4 CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f052e4-46cf-412e-a601-7945070db929 CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a2284cc-1075-4055-a568-7e869068f95c CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0b4736-fbdf-4e4d-b685-45c5f4149972 CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8b2ba09-728e-46b9-81eb-199198c8a50d CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3aa3413-a75f-4202-bc56-caae390d7dfa CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b03bc44f-4718-4e4a-9711-eea864f262ea CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72777c8-f8ef-46e4-95c2-cb673346338b CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94cf9fcb-502a-46d4-8478-4c6c43d17186 CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d13c2a9-2ede-4ccd-b3d7-982391cc4faa CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63824103-36ca-4555-9f9d-07fe624a3644 CLINVAR:250949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d91f025c-e4d6-463b-8e07-ae25f51ee1ef CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 493a41a4-f167-4ce6-b674-fdc5e475f0ee CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e4df919-3349-41b6-8a40-72f9e12030e9 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 869a309b-e837-478b-81d5-d440e8d70f00 CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaaaea10-2b34-49db-84ba-7f481d04436a CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f2592d5-40b6-4be3-a62c-50a663472e74 CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b739ff6-48ba-4c0f-8f73-229376c7ade6 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2696e92-05fd-418d-b42f-bf6d300d0d3a CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d171469-d3e5-4a42-ad66-c845ca320536 CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fda4fe91-cebd-4b61-8579-05ed9caa8648 CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8658211f-4369-4298-a8fb-b10d217dff62 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed03ebf0-ff3e-4289-8fa7-2e3ba48bd6fb CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f72e05-be44-4cad-a0e0-4fcd46c465e1 CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6245eee0-fab0-4388-8542-83db2e30d772 CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e551dd33-596f-4e5b-b4a2-d20a7cd867d6 CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf51984e-175e-4be2-bc30-927e39e9a969 CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58ff2e7-79da-4ba8-a1f1-63da5f589c60 CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c517fb25-9fd9-4e48-9f7a-5e1ede03497c CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00afe7c6-3212-4d2d-a05f-9a114d9c2e61 CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9092dec3-c593-4b43-84cb-a4325f402c07 CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b916df7-1f85-4eef-a35a-eb5981b24d21 CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ecbc8d0-e02f-47da-a16f-c569eee4f5ad CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528421f5-ae08-42af-9c9e-5ff2f1bd61cb CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc197a2c-75ec-4cfb-9f0c-c3e1ed473a02 CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31647dce-cd5e-4c28-9782-ae0eccd7e235 CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd75bd31-2de1-48b4-b5d0-8e3c0a46ef90 CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49767066-d5c8-47a3-a0af-ad6dc4f30e4c CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6f3d42d-8c96-4f69-86b2-88b9135d4790 CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775d91f0-d930-4993-b6a6-33a5bbf99702 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 821e8660-5cb5-4835-b1c8-78400f336ea2 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462f364d-7d90-4a09-94d7-699b169dfa97 CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed9534bf-95e2-4312-b20a-58580c298c51 CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ebdffc7-e95a-4300-b532-53b37f7d5f6a CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7adcc02f-3cde-4b67-8d7b-3080efc408eb CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb357bf3-6192-4075-ba0d-433e6f3914a9 CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22653902-0a06-4f3e-8d34-1f74c954a38a CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce0dba7-f306-489b-8150-071de9602b33 CLINVAR:986494 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da612b4b-79bb-42a1-ac7d-341d8103aaec CLINVAR:986494 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a254c5a8-7bda-4828-b57a-8f9ee136a409 CLINVAR:986422 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdf3519e-8dbf-4550-9cf5-21b47fb7881a CLINVAR:986422 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4feac3-ad57-480b-a0d2-5aa8a38e61e5 CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfbe30a9-72fa-4076-8aa0-20293f862211 CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8acce52b-2d5e-4d65-976d-400fedb678a5 CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70ba17be-3261-4361-989a-2797cc4f01c9 CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9356c084-467e-4ce9-b07d-8e0c0d2c74f8 CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10a89811-560e-4220-afc6-b5514effabda CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d45bf12-6a2b-48b3-a692-7edb6b0456dc CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f356f9f-e93b-4d67-aaab-0b0f8f62f058 CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274cacd0-c38a-4b1c-b5c3-df707fceca4e CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f02886ca-22a2-4079-8cc5-1bb73bd80b2c CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901afda4-bd47-4012-83b6-8a0a75b93c62 CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 554cb81d-58c4-48cf-84a7-7f7200b92ff1 CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d58f4eb-0276-45bc-9548-9296d96b5747 CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d31bd0e-30d3-4c2c-bac7-bea04309a8cc CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7797a08-b474-49b2-9bb0-a5ece73b60cd CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47ddb224-26ff-46a1-aeea-a088c97ce725 CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e43f2a8-c660-41d9-9d20-7d7c2b7afa60 CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d8d1e78-841a-4a97-9941-d53a669361c1 CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea080f12-5d09-4e78-ae0d-0be3fb5135bc CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c43077fe-4f06-4d9d-8d01-986f676c2163 CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ee12c4-60c4-4a09-9db5-5bffa4fb6cf2 CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a4a0cc0-2789-4fe3-b918-23d78ea26121 CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbfaed41-173f-4e7d-9f56-8c3b93c361ea CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd36c7f5-68dc-492d-8912-639708a592a6 CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95879292-fa35-48cc-a808-12f55324f868 CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0687e345-9952-4f9f-8113-fc8fbfc4ec9a CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e8a5ca-8636-47ba-a65a-e00259ea6ba1 CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8776036a-5474-48d0-b7a6-3fc84d199358 CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af438dc7-79c9-4681-9f89-2fe915751036 CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3abba1ec-69c4-4a35-adfc-66b2c471e430 CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c67fc6a8-abf3-43bb-8d4d-2b37c68d4468 CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59785743-6f13-4489-8d89-0e9b5cda1d86 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f628f515-23ba-43fc-8ef6-c8ff8418312e CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 923fd7c1-c56f-47d7-b5fe-bbf4aa3bdb17 CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87eb96d2-191d-47d9-93bb-d7b8dec3b76a CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 520d2153-aa86-4bcf-92d6-b248f3cd8042 CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4e38fb-3c32-4112-9820-691feddc9d3a CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fdb26d6-0144-4dfb-a26a-ac8756a3cd36 CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cff21e5-3c90-4f55-8380-cda44d1b738c CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f51d41a0-abac-4fdc-9f3e-86f1a807f088 CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810ee12c-a075-4cb6-a2eb-acd60e962a51 CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4789a455-76ab-4b53-8e15-6772f44b678a CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0407a11b-cc3f-40dc-b0e4-6eeed7825d3c CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87afd321-8eeb-4d10-9a37-1d33e4b5a9d2 CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b67c698-f824-45c2-9341-9eb633a0ee73 CA2573320295 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9124a743-163b-4e92-a217-13d59f5e3e26 CA2573320295 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044c8332-e9be-47f4-9f79-85268e0774ad CLINVAR:645957 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7de55f0-a16e-4297-b0b3-dbc7b27d9bb3 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d44aa12-fa1e-404c-9811-445ee9417eb9 CLINVAR:429154 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ad8afaa-e15c-4e79-b0d9-ff6af0417b6c CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355a563c-ad54-4e13-9e88-f83e595736ef CLINVAR:644129 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed24c10d-5bae-4508-93b9-87c3fea32fa2 CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261131e5-7549-4e80-9412-f9ab6cd538d2 CLINVAR:483408 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a508bdff-6461-45b7-9b64-8c13943d95fc CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3afdc374-7cde-4e5c-9d28-0a0b89d8f9e2 CLINVAR:825868 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b061b465-ec15-4f37-ba29-ac397999a5fe CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7b0210-ec6f-4603-a034-7bfa350c59db CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d522b35e-3ebf-486b-b134-184945521180 CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c148033-fba4-4fa1-8b55-0f5210f43afd CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14298f68-235a-4d23-8299-d3aac3437ac7 CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21bc15e9-f217-4ac8-85b4-547b069eed51 CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c06280b8-eae6-4194-8037-2b79200917b5 CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a53e27-8b5f-4071-9691-c24fb1591179 CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb5d384a-e898-490e-8f55-ec45dd425164 CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a0acbd-7a15-447e-ba62-80be4361a6f4 CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60eb34e0-a6df-4d62-99d9-04118259e6bf CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb0c64f-20c4-4f82-9278-5dd5504731f7 CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42bfcd2a-8763-4d2d-adc1-1a62bb0a647b CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ef9599-c473-4f18-b0a6-c287d4e3086a CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 900c3cd0-4bc9-49cf-ade4-0ec14f61fa52 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb78890-f8d0-46b9-b198-a301d7bc7602 CA343719989 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99843caf-d255-4fb3-8e45-f8843d306551 CA343719989 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88eae73-aa77-41e0-ad25-53c4da74caaa CA421939411 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c184705e-8707-47e6-b58e-e2de0f8cf244 CA421939411 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616f9daf-90c5-41ce-8fdc-be5c2b8ad88f CA421939121 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen caefb5b3-f24f-4b24-adb9-49a17a7d108f CA421939121 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae760db-2693-4fa9-935f-81a34c969457 CA421783387 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ab46d70-fd63-406f-92f7-a46d67605f8d CA421783387 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9601d239-6c0c-4612-9fab-0ccec1c56642 CA343726256 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c725fb46-dec0-4881-9a98-641a1653dfc4 CA343726256 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3de763-1b36-4090-ae51-08b7c1571f16 CA343726232 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03b32a40-8bfc-4295-8f3c-f04be9c0cee5 CA343726232 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f118a3-657c-4928-b86e-55f480294c32 CA343719729 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 306e8c4c-538e-4ec3-ab63-d1566bda6eee CA343719729 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbce3bb2-7334-47c6-a9dc-9751a4018bb1 CA1244313 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9657733-ce9a-4e40-bfba-83fc96d8adbc CA1244313 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb75bb37-4e27-4468-9877-519dbd2566b9 CA421939567 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efa00e67-7cff-41f5-b090-710e04b09790 CA421939567 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79e3438-962e-4a79-9dea-41fbabff5c13 CA1139770890 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11f7db13-3a3f-4301-b4d1-4e0c31c11612 CA1139770890 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af21fc5-e602-4ddc-8f4d-29aef13eb1e4 CA1244287 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f50bc92-6213-4ef5-93d1-bec241e413a9 CA1244287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e9aa7a-af52-4c5b-b5e1-d952bebcfeb5 CA343718023 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d303b2a-d1a8-4dc6-8029-4f9dbeaed316 CA343718023 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c2f257-837f-42df-8fbd-5af83051d760 CLINVAR:1313921 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 759fa9a3-ecea-42c0-a6db-f55389760b18 CLINVAR:1313921 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb8c5a4-1ee9-4a7c-9406-65a8e28a0070 CLINVAR:293716 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e493ccc-52c9-4ce3-8d45-5a1d244787a3 CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b808e2c7-0a26-4c8d-b4c3-22437c48009d CA343725980 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2949ad4b-b9be-442b-b5f2-cfc22ee236b0 CA343725980 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad715b1-64fa-4f76-9b77-8ae6bb5a9ef6 CA527600366 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0598f40-645e-4d17-b66c-1b65c56b9220 CA527600366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4249e1f6-b7d4-42ee-8e15-51be5f9e5b61 CA421938925 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ed205a3-6418-41e4-83f9-2204769c910d CA421938925 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25bd51a2-b8c9-415c-b3ba-f268f3cdbeaa CA343725776 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 611d4b50-605d-46ef-96b5-804f3757bdda CA343725776 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2acf39ae-d707-431f-a5bf-32ae16a1e0ad CA343727113 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ab7e0c0-b273-40cd-aaa2-4ff0f4bec8d0 CA343727113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36c9ff8-c95a-4dbb-a5b4-ec6df0bda1ff CA343725270 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d695756d-0e7f-4826-8518-5337abcc56aa CA343725270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8caca23-faa1-461b-8865-de137dd418ec CA32685841 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0318192-261b-4d81-b8a0-b5979082a8b2 CA32685841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b42c54-5699-468c-9857-63e8d0593908 CA343727064 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edd15160-70cb-40ea-9502-ff61398c3768 CA343727064 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fdf0eb3-38df-4103-bba1-fa716bb8bcf1 CA343725124 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4aa75f05-9f48-40f2-86dc-ec7968dc08f3 CA343725124 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdbdf05-9fa7-4931-a9ae-93e25800d169 CA343726916 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 924b7bbe-833c-4efc-9307-20fff045fd62 CA343726916 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c794f3d1-bac1-487a-8acd-d532dc76c779 CA1244093 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a734f0ce-4e9d-40fe-9195-92a28c90cf7e CA1244093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6abd890-268f-4b89-9b39-177f39e088a4 CA343724604 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 634a50dc-22bd-44c2-b134-dbae9aa8d5e2 CA343724604 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f26d1e-85ce-4724-b3c0-4a8077247eb9 CA343724410 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cba536e-2329-46aa-a20f-f9906fc3f620 CA343724410 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b712c9d8-1917-43d2-998a-05d8d803e840 CA32685503 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07b4d45a-676b-4cd9-aca5-204528523f5d CA32685503 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd71c8d-13e3-43ef-b355-39b88eb73d03 CA421938581 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0bd2dd2-fdd4-4b8d-bc8a-c02bd477e340 CA421938581 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18335975-cbc9-4be2-b6bb-2c37a6ee1204 CA343722900 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2698ce7-df8c-485b-b037-a47a4c11c167 CA343722900 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1470cee-bf6e-48a8-88b0-ec87eef11a28 CA343726248 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0bc00ea-4c9a-43f3-a633-b1e73376afe0 CA343726248 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84453b7-23f6-4c34-a2f3-2171c7e22f3a CA343725757 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd385e76-dc25-48fa-a0fc-434d3d667d7f CA343725757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1efa4a7-e16b-4fec-bd4a-758f81d41e96 CA343725655 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 843ad82f-ed5e-4950-9bc1-df8b344119f4 CA343725655 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c757c0ff-0c5f-43a9-acbd-0d27d1cbf8e1 CA1244115 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ba2a58a-1695-4e51-bb27-9374b8f127e8 CA1244115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70dbd34-df31-4ce8-aa96-1e8d03032d0e CLINVAR:1439558 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61512d59-2df5-4ddd-9c93-7cd1a5d70378 CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12076f55-d378-49df-8f63-c904a373c33d CA343724987 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07c8fb51-bb54-4ce0-ba6b-c0633e5d6268 CA343724987 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5085c5-759a-47fc-ad77-1fbc9e765559 CA343724596 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea3260b6-1106-4ce3-a6d5-2bb052431a53 CA343724596 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6271b5bf-55e6-419f-8895-2669ecd8db0a CA343724341 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 714c54c4-ad93-4b6c-b26a-b08fdb914d6b CA343724341 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a63b834-c31b-4a2e-a077-5f94578d46ab CA343723835 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ae34a8f-d5fa-4151-ad03-6c5e9922209c CA343723835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd815c7-ffd9-4887-8d83-02de339ce012 CA1244048 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e518a391-41a7-42c5-9ea0-428f828e641e CA1244048 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fcdb05a-d2bc-49a2-bde0-0cd745dc6e77 CLINVAR:412160 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37d3a053-023d-4471-99fa-c7e31284a76b CLINVAR:412160 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a94baf-02c5-4c50-8809-a12f1b08e404 CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db36ba95-8ba2-499b-b431-df8e238b7538 CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73adcb26-2a07-4f17-b913-6a67c89d05d6 CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75db9a6a-93d5-4c87-a51b-5d7340d71fc5 CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e8e81f3-569e-47a9-8a1d-24ed0f438fe6 CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67a3538b-7b3a-4ae8-959c-5e79bf4a9399 CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f068204-e2b9-4c71-95b7-6c4347ae1b40 CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 958d6353-5482-4e09-877e-db0f24ee5977 CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c170a9e-a613-42f7-809c-4990aeb1c15c CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 331c7c8e-b1d6-49fd-9e16-37ade8dabe69 CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635a0913-c09e-4bf0-a60f-a5432523a121 CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0282bbd8-cac2-42cd-ae74-88632970fd96 CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068850f8-8e8b-465d-9bdc-78ff8c5e0d50 CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec2b90c3-7a87-4b55-8a38-9a7bf8879b5d CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd23e7e-afac-4d2f-b435-bd3bb7be83d9 CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aaefca39-1402-4a3d-b41a-4a309883d6fe CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2107b4a6-5c21-4ffd-8295-2befef2530d4 CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cadd274d-02f2-49a1-89b2-dad1a21c3f81 CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab9842c-15b8-4870-b513-24ac95827e51 CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f60f6af-e809-4848-b5c5-bd2f07d2865e CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35956ba0-1657-4eb0-aace-e6d8d9569e15 CA400032606 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f83ed25-5f22-43b8-9e56-72c4e6f92c08 CA400032606 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0cd8402-3eb4-4a13-82d0-2f4dd76fa1fd CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3d21a2f-b7a4-455c-8f03-d5edaea9bc00 CLINVAR:9628 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b111c4cb-534c-4465-b3f4-ecc05668e42f CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ab14d0a-4b2c-4044-8396-f09ca1ec4e81 CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50eba4ed-df49-4143-baff-e7e9a3d69b89 CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ea25964-d538-4783-a560-bc3010a5ae45 CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f082f246-8389-43fc-8ae6-0ec19285cea3 CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16dd9654-664e-4ee4-87c6-eac2fe30a764 CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48332bc2-14d1-40ca-9fc0-9babed4b5291 CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f5b81dc-469b-4c2c-96c3-e05156736b8e CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18664d0-e070-477f-bcea-efceb76273d2 CA400024376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f35e4d69-8318-4734-9f59-c9d48a7ba2f8 CA400024376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d9f381-f3da-451e-9ff9-48eea3e1e74e CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14a9bece-056b-4834-84ca-dba6769e81f5 CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee38e23-fc42-40ba-b903-ca30e67e246e CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab1b485d-1a63-4904-bc4e-4a1a5a0b471d CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00a8c5c-878d-4101-bfe3-f1f0cdc1ef64 CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3aa0231-9d64-42d9-b8fa-2eae514b589a CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fa8121-d5b3-4ccf-be3f-3ca56dcfbdd0 CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 070718dc-3a79-4e82-968a-0674f3267635 CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6b8a1a-6df1-4a40-9e36-4146eb140433 CLINVAR:1676595 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e92b325-2d91-43bb-ae8b-0cd6d2cf7221 CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 083e0370-ddea-4866-8792-ddd09e272627 CLINVAR:825824 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e895554-7dd9-4884-babd-b3d303122a76 CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597b03ad-e19e-4e24-9b3a-94111350f36e CLINVAR:543574 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1b63942-4953-4f76-aef9-daedd1e027fc CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ed9dd45-db6a-4ed8-925e-38b954255338 CLINVAR:570456 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab469f82-7a2d-49ab-8ceb-56a2d1744f19 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ea231c-4d47-45ac-9158-095d87b31e3a CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f90fea33-b67a-423c-b925-73957d20b4b9 CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27e1c10-4d7d-4464-a947-f3f9f4c511f9 CLINVAR:648917 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 453999a5-aa56-4167-897d-5acca8d4ac40 CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e08f7fa-6f55-4f4d-8b9e-49305ac5cadd CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b7df696-d626-4cce-93f2-f43701926c42 CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f61f75d-ca62-4ce6-b59f-6e2c90713ead CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97da3bdf-be23-481d-9720-9098a9ba8c37 CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a685c125-b967-4f34-ba6f-49eaa34fa081 CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17cbdc47-9580-4b61-a05e-239a137c3c67 CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44c2faf-056a-4787-9c47-f44c1f414a43 CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e437c0b-f427-4c88-8eda-776118056243 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562ba36a-3f52-4780-9ca3-2671787a4934 CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ec07509-4f79-43bf-93fe-65bdb4605880 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89769bd1-abb6-468d-9aed-8152cbfd5fb1 CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3a32475-2627-4039-8d7f-f991903efcc5 CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 195851da-4cfa-4602-a7c7-210d9aeafc39 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 536d6b14-b5cf-4fc1-880f-31b71a608b0f CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459c0a44-2ec7-40ea-b980-a68808abcb06 CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebd3d359-970d-4779-a83d-956fd404c1ba CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a2bb2c-07be-40d6-a755-fcf570f91812 CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b7b00ea-ce72-4ab1-bd48-9552677c35ef CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b93ebc-7324-4c01-9fe6-6036af4ff869 CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53e577c7-d6a2-4d55-8e23-9250c2aad461 CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1b892f-362b-4b5e-908e-0fd71cb04b78 CLINVAR:844968 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83c3b422-40a0-4fe5-bfa6-60834745483e CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7b107e-0aa2-4283-ab5d-9a0a94273b70 CLINVAR:916122 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bb8c2ac-02a4-4fb9-b007-6afc6dd35345 CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186bd2dc-87b6-4052-accd-be2604f299ca CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b49a452-28eb-45cf-aa28-3c0836f9d40a CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf64475-3459-4e74-87a3-604ee40e0aea CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f012d335-3813-4213-8893-b2a45b7fe5dd CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5722c9a3-8083-4526-876d-3655f0ef51e5 CLINVAR:205598 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee9e822c-4a75-4b84-8db4-30c82ebceb29 CLINVAR:205598 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ace422-d808-4cc0-a5f0-9623cc91a729 CA392254706 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfa14ab0-b928-419c-abfb-4e7bb53ffa37 CA392254706 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fdeac87-1a92-4756-89c8-4e648b4088d6 CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f51a82a7-d006-453f-98da-f93b0f6ab823 CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8274976-589d-416f-b6d3-f3b9a650eb3a CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97f0a67f-e7b1-493a-8c6c-78bb28cd9546 CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f492c059-d40e-4c78-9c30-bb51f4009a8a CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75904249-290a-4956-97e6-e9474d5e19be CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41aa1ef4-42c1-4b12-95b9-26a654aa6e62 CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2ca94fb-b11a-47ea-9a8e-1cc45c80cda8 CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b2fa14f-c366-4d83-a38d-61449e650e31 CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9101736-92fc-4e24-b8a1-2cd8503a4eb5 CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e72f36-77b8-440b-b7d9-0818aaa825ae CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6b7969b-af13-4314-96e3-e4ccb2874cb6 CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce55400-0d45-4c9c-87b3-92ec4c3bb41e CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6be2639d-70d5-463b-9a68-5dceea9ac089 CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51306f6f-d042-4903-831b-2033b55288fb CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0a3303e-d146-4d69-b576-e1e76bc392a0 CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c689be-8c7d-4701-ab08-e14974ffb678 CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 149eacb7-d9c2-4871-9b5e-ff9e560625d2 CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584a3522-e435-4d69-8de0-31ab89485c7d CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc3a6d5a-e860-4c16-ba9b-542ef476eb96 CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfed2273-fd58-4500-9d39-8b8dd26eba12 CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72a917bb-6d37-4ae9-8a76-3c02aede4c7e CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed84a6b-d097-41d6-ade1-691251973402 CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fbf94c9-9664-425e-9966-b14eedce5562 CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66820907-e1d1-4308-9f5f-776a3563d393 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17541248-7355-47ad-830a-ec1a455c0ea1 CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f06707-5100-4c98-aff7-1b2333bc691f CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a64113a5-9bbd-48d3-9bf6-f371c3c382f0 CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a78825aa-9ad9-419c-8105-1fd3cc6ef07c CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1742370b-a047-4df2-9adc-faa46db3471f CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6479f87f-f99a-45a3-a249-b53f95d6078a CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94df27f0-a85a-49ae-90e5-59490a37c98a CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6f53b1-d240-4a75-851c-8468172a118b CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57b17886-53df-43d2-aea4-e0dcce6936d1 CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5977c66b-905e-48b1-b4a4-e8de3f4025cc CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49ffd097-ea4e-4dd1-bd45-1d7aaeb82428 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bf646d-1d8a-4876-93ef-42f1af8607fb CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b58ece15-ba48-4bc3-a95b-86b5a42ae4a4 CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b19f79-2e37-4439-98f1-6b5bc335808e CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09b1b105-da9f-45d4-8bfe-4e75665c03b1 CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1eacf4-1c09-467a-9254-c0e0521c53e7 CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7703ce4-5b8a-4af5-a29d-2204fcc62bb3 CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a0b2ca-d64f-4c2d-8fa1-6f8c77eda356 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d5cc8a5-ca00-409f-9b87-988f72bf495b CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9ef262-8f88-4ddf-8394-ef4c1480cc0a CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b33d0783-bab6-4a4b-ab74-f30d0c3e56a3 CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2077c4-fb8e-4ea1-9ef1-d49481c133a0 CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 267f1954-7506-47fb-9a6d-a7bf3bb725b0 CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5029ec8e-593d-401f-8ba3-739149b16234 CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8da2364d-6167-475a-b1d9-d86c16da8239 CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a67e9bb-3a5c-4dd5-869d-d102c437c680 CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee164df1-8bb8-4828-b69b-a01e6086625b CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48f3d16f-be26-435a-9132-a9efa47bcf8a CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cfcaa79-1f59-43c4-b385-a9e75d897986 CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c24eea7-2e1d-412c-8675-a640ba657739 CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c673c729-c8b4-45e8-9789-1841ef4cd9ac CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0067973b-fbca-4b87-b8af-0f5c13e0962e CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3cbafa16-4279-41d2-a21d-856562d6de39 CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ca8658-c1bd-4b29-ad92-6a8687121eb2 CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9642395-0f89-431d-8dc4-760150abb963 CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e5bfcd-ca8f-4128-a3f2-620735d5016c CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e53dd8e-dc95-4763-947d-bc5ed780dac2 CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f134062-6a1d-4b40-b680-b45bce080220 CLINVAR:428186 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b983f4bb-49fb-4cf4-9956-d7cefed64dba CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfdaa71-e40f-485f-8e9a-5e039cf3c009 CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33062a8f-7486-437c-a98f-2c5acff7c7ed CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 847e4567-0c29-4481-80df-d2b8fb625612 CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen caabe198-9c34-461b-bbd7-272e3fc9e065 CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5bc8577-b996-4f8e-8e62-3234b52ff692 CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22af4986-0b8c-4c04-b241-a296068e58b3 CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 572b7cbe-dbe0-4228-b887-0a6980c67ea5 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98700fe0-0b25-4066-beab-d01d0ffd94a0 CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aedada6-69a2-48e3-b769-090ee144d9b2 CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0503b1e0-0ac5-4259-8dd8-8abee3930c7a CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765b3b28-6168-4ad1-92aa-2b30cc4be83f CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cf22646-0235-4785-9cee-9d0367b2a720 CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1164a7c-9f42-459b-aa44-6c30da7ece31 CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96303800-c0a0-4949-8583-2af2df669256 CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078456c3-edba-479b-b7d0-27c9864b31dd CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e07e760-a419-4df3-899b-581702502268 CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405e1b7a-4776-4cbf-baa2-ce74b59c564a CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab086849-5e10-4aca-8ba5-26be7e5491c3 CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26fc4aec-d4d4-477b-818b-c08ce90a502a CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e48e78da-acb1-41b3-8e82-f3352cccdcd7 CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3de47e3-2206-4105-88eb-8f11effc08f6 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a90cf44-692d-4473-949a-a4493fa1c8ba CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6cc37e-595a-40e8-8ea9-ff7bb9e1f482 CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 469498f7-2906-4f3c-87f0-23f74a142ae8 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814f0875-7bac-46a6-9628-691f15e4eaf8 CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6cd1fe08-704e-41c3-9461-ae4c4ac0a660 CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ee9578-e380-4101-bfa0-92876d62c459 CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f8080e7-0084-44e7-92e4-62fd4e681e3a CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f95978b-601e-4b59-9954-f6d3718e21ea CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f6cccb9-cb56-486a-ad3d-0c000da9165f CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55af188-6972-4f35-ad11-205d63d3f7d2 CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3326606f-8ccd-4151-a984-13e4ad58f817 CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbc3e41-a504-455c-983e-c76104b15569 CLINVAR:986496 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa8cf4f0-2ded-4a61-a998-f8810a6b7102 CLINVAR:986496 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef1ab61-af62-46b4-b14a-001463e418e0 CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a7b8f0f-6f5b-44c1-b2e5-7e440ead5a55 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54eb432f-ca9d-4508-bb38-ed04f8b4924e CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 312ded8d-856e-4557-a663-3ffd799fef3d CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385eea43-b02d-415a-b84a-ba24ff25c88b CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9c9ad44-07d2-444b-9daa-0e0935174c79 CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39184403-d13e-45e2-b1d0-d3b722dbeb43 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfa47c58-b9cb-4750-a2de-9ffdc2d1a7f4 CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc414ff1-99b2-4c32-a68e-8f1c02ba3e48 CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 447511b4-5e7c-4d97-b76b-a221bf6af961 CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec145999-87a9-4ac8-8e5c-1db77c21d990 CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c197dc1f-57d4-4ae7-88a7-ba230e26c2f6 CLINVAR:986440 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 034ddffb-c994-413b-88fe-997e931ec5e5 CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0f571f0-0659-406a-b329-3efabf8f634b CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba78a274-9c44-406e-b93a-1d3311c87080 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29d0f4ac-8a25-49d6-aa3a-424c9d25fa12 CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f311b2d-eae8-4dd2-acf0-7132cba5ffb0 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35c58885-f806-40cf-8c7f-33e89a4cd532 CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e142d7b-be64-4e69-8e8c-57e3b8b865ce CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2efe35ae-6bc9-49f6-b377-033c62dc5d68 CLINVAR:2573215 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbd1bb8-6155-4a45-add1-ecedda0e4f75 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0553184d-ba9e-4c2f-b44a-e993b5fb5c46 CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7444b814-7c00-4fa2-aae6-4dc1148ae0f4 CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69656f16-a2ca-4e3f-9c0d-dbd7ef06ccf5 CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b1f4692-62af-4286-8bc0-e63bdabaf138 CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00db0ea5-6812-4bd4-8c36-9e97d86339db CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977f9911-5793-4f05-bbbc-f4e6e598ac91 CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab0575c4-f1c2-48a5-878e-933f1a7fa2ab CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d69288d-fcdc-4223-ac92-3fa456895f37 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42b7a4f7-633d-481d-9ede-d4f3a1a50bde CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d1aad9-8658-4bc5-85b7-60de1803ba17 CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5238064a-87b9-470a-b459-4d7874454aba CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d77dcaa-e701-416d-a78b-6b87ee082cf6 CA8603038 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6b700cb-e3f2-4021-a35a-a37b27ff9bd7 CA8603038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5598d023-8fca-4030-a056-38fb90d9e185 CA626121071 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0673ea29-ee3f-4286-abb6-931f7740cd86 CA626121071 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1a8724-6190-4c0d-83ce-8d05397e9a0a CA291224655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b61fa44c-bbc8-4fb9-94e7-91a527410b7f CA291224655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75bf8948-8370-472c-950e-c3c4de82b67c CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 717ef1b5-cee6-4286-9872-0c7855e89bd1 CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f908462-e46a-4dd2-8aea-387e49f3b903 CA291224635 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d158e1b0-614c-442f-a33c-e3b060d8e499 CA291224635 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715e73f5-6b8c-420d-96af-9447233021a5 CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a7564a6-cb54-4d51-bd78-888e0167eb71 CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0640e6-95f6-43d3-8c13-6343cb6050ca CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41e4cc9e-b749-46ad-aaa1-94a638db4f34 CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fd4f9c-eab3-4260-9e8e-bdfa40e8b286 CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fc2421d-8fc1-471e-8fc0-8493630bf6eb CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4218f6b0-fd48-444c-a078-0206d263e4d8 CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c1056fe-bc83-4466-893f-94fccb92e92b CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8218985-44a2-40cd-88a5-fd89e553bb5b CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0f15db9-0508-4afc-a918-1debfd3c9837 CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b2fb95-7b54-4c33-9365-9ca5ec8eecec CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a062786-c373-4921-8c71-6d4a7e2d6581 CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291e628f-a896-409b-ac28-dc3c7a686085 CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2758c98-1b9d-40b1-941f-49c96724bbfb CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795596c2-e559-4e15-834b-95c5418b2b90 CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec306602-1d7e-48ed-b722-8fd853734ae7 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb926532-e51d-4c5d-a429-d5ce7810de90 CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e867a09-9469-4e46-bcf0-9f58daad4e6e CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddbcd66e-a017-46ab-96b2-968d3e830ca2 CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 905ba9ff-621b-4b23-bb52-ef95f517de0b CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3944576e-dff1-45c5-a51e-1503664e2fb4 CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5ace289-67fc-4333-bf5d-a7f4feac3660 CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe1cc25-ac81-4893-b473-e0788997aaa6 CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 234fb46d-9f47-4ff6-9829-54385abbd257 CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120369de-f6bb-4623-b627-526b45ba87a6 CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d012ac38-c96b-4bf4-a7a6-171330421f98 CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa07375-3607-47ac-8d63-2c47c8798f4a CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57572dac-511e-4e2a-8aff-d6d298bfd5c7 CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c66108-6f6b-42f4-92e7-c4aa20b57931 CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a84dc69b-1142-4f17-b37c-4036bcd52390 CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7582159-35df-4fc2-8f6b-2aa526dbd6a7 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f08ca0c-4f4a-4f7f-b4b3-d3394b157843 CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba105e4-5185-4208-8869-917819438d7d CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2466ed1-8754-437c-bb04-9e42b37f4c70 CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167993cb-4165-40ee-aded-1830beaa7df0 CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5131432-ab46-4b13-b5ec-55a14ea19afa CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7436ecd4-48de-44a7-8cc7-04a62f83001c CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0275476c-a60c-4a25-bd9f-1e1ec1c1b7ae CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9187b5-cbcc-4cd8-a406-7a2bb28a3356 CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4df93b9d-f5a3-4f4f-9551-1b41976c7596 CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49dedf52-2733-4bf7-9026-403ac11a5e8d CA402998035 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c3d00e4-53e5-4beb-b149-4397a4f88d54 CA402998035 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56b83ec-d23e-4f86-a748-d22c819548a0 CA402998003 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2f298c7-fc6e-4afc-b712-b74b1a42ba4c CA402998003 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4818a7ea-b4e1-499d-819d-6ff0d13394eb CA402997207 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0d1010b-66f4-4285-b318-d2712fd49cac CA402997207 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a66e91c9-4537-4ce7-9edd-c7788b404ec1 CA402997017 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d765b57-f419-4642-90ae-5bcfc917f2e0 CA402997017 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a41b2d-5878-42d0-8243-707482f4b24d CA402995480 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3493e950-c467-447e-81a5-4adeafe5b595 CA402995480 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4ea707-1776-4448-872e-333733c3afc2 CA402995388 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae6461f5-2264-487e-b6d2-3c1e954e9b97 CA402995388 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cbf3be-d4b9-4f6b-8402-8d188cecada4 CA402995088 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c3ba755-5f95-4d91-bf3b-8df72e9f789e CA402995088 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9ddbdb-97f1-4434-8648-25127c3ca6e0 CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5bf9d4c1-5392-4402-b79f-1d06de4bb82c CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2caef4-755a-49a3-83b6-a47cdf11239f CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d3b8722-7ba5-4536-9825-52e8e9599dd6 CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3d59e6-db17-4c47-a5d7-6c2021fafe11 CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0fef01ff-1273-4b33-bd54-5ac5aceb8c51 CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9011550-2945-40b3-adb2-4f67f71c6116 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6b8677c-d2c3-4b46-90ad-73b5b3a44071 CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cba4663-3ad3-402b-abab-d06e25c7a9a4 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e64e4912-c588-493d-9a12-0d0ca81e1691 CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af55c46-024d-4c7f-aca8-1fd87b20701c CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e91432e4-f5ed-43bf-8a2a-1504890a99e2 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e891bed-5101-4fef-b805-223086671f47 CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b47f1d4-1384-420c-85b4-560188219fdf CLINVAR:986477 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f661724d-3bdf-41c6-8458-3e592840a932 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 718b7350-39e0-47b5-95c9-804893554902 CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0901e67e-9939-4cf6-963c-aa67dea7f3f2 CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9be8f48-5fdc-4c42-94d1-be93fbfd38a0 CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff24ca9-d396-41c9-94b9-b078bbdb741a CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f998df85-9bfa-48f9-a060-05e891686211 CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a884097-5e37-4fd2-b0d2-d77e8fbfe49f CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfeaf52b-bc53-4749-932a-af516274475c CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31afb24-39d8-415f-8d10-6614bc088b5c CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cd335a6-bca2-40ec-b42f-54dbf2558d54 CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bccf4b3b-7321-4324-b48e-76e41f0c0e86 CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce486b77-4970-40b5-9c14-00bfd07ed861 CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea951f9-abfe-40be-98ce-4ab164563afa CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1e3cf77-b044-4391-b21c-663bbcf8c0c6 CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c708260-6e97-43e2-a7b1-5937fce162b0 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b10d5318-9f0a-4acf-b535-3cb8c6f9a792 CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b43d295e-7831-4f76-9855-d285e00e9e25 CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75a9fc3f-9d80-4365-ae9b-6bf3d1335606 CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22039920-aec4-46c2-8b22-abc34cb0eb6f CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c6b27c0-8c9e-423f-8470-82b6394c18a1 CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98466cc0-a6db-445e-a291-b185aafd21cd CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47ae0933-bdec-44f3-b9a6-c653b399988c CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1252bcf-6ea5-4fe7-9cbb-1eec668522f1 CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82579687-81c0-40f1-b5f0-ec316635eebc CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fba623-3fa5-44db-9f6a-8056310a9562 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d3afd40-e5c4-43af-b05d-f10be1236905 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ae0f86-f2e7-45ff-b8ce-d83537755643 CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35d36d4b-3e4a-4f82-859b-3fb66aa1eb23 CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b810a25-7bd2-4a09-8459-efde3d59f797 CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 600d9ea9-7cdc-46db-b892-756d1d97571b CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c4a92b-5852-4121-b84b-97c16d546adc CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b413f709-9757-4287-a17d-35695fbff9fd CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c446f99-b410-4be4-b3e7-2327ab71a46d CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5240c9ad-a0d8-457e-93e3-b8d066265051 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575a051b-ce5e-4e62-88df-031e0f608d60 CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4482582-3308-4c18-b75b-332c4fedfe4a CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a931c5f8-5df9-4a01-b05a-4840a896bccd CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 131b2477-d854-4260-a11b-3e8b1de5f0ce CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41415466-095f-41db-ac92-fb4602e64a7a CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67fc08c9-1005-4c3c-b3f1-fd88332f263f CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe6f5a78-2ddc-4564-b9f1-ab6245675551 CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c618c467-be55-4047-b254-fe8fca19ef06 CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b3def15-6ade-4b61-aff9-38d275452546 CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01fe0d47-fe1d-4d52-b623-c6807a672f00 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8331e8-df75-4518-8851-1bbee6c6504a CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 817606ef-6fa1-4846-8b60-e4c3467506f0 CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c976e905-2b15-466b-ac9f-ce482d47feaf CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c615965-7bf7-4c14-b481-d163baefbdf2 CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b5c4c0-2256-49ff-ab53-092762d51e4f CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88096aa7-cd8b-4a39-b80d-93984013a4fa CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aac013e-241d-4d31-92f5-ed736fac0243 CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ebb8cd4-50f4-41b2-8ba8-e8a6e655a294 CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916a9d00-45d9-43ab-8506-b001214b69a4 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6db67ef-8c4f-414e-a1ae-bde1ecb9271a CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2786a154-6f60-458e-b603-a4272f0ef031 CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65c8a359-2412-42c6-bc4a-d5e9ce6dd06d CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb3a11e-90dc-4f90-ae76-98e06522b9a2 CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c7ea800-515d-4070-ae28-7c324864b30b CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b99b2013-1b76-48c6-83b5-598c92d3afae CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6600aeb3-beca-4760-a2f7-b21a2955fcbf CLINVAR:9563 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce225fc5-54eb-42d9-b284-25b3197b1b2c CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c652ca3-aed7-4e20-9dc0-e869d76569a3 CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a9d790-5c61-49e8-acf0-eaeb9261afd3 CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4d2ef4d-6622-4199-9076-cc24efa5464d CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587a58fb-6968-47af-ac89-0b877d202015 CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ff67bba-1bb1-4691-90da-e8c8012949a0 CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7597ffc2-c09d-4775-a073-79295fd421e1 CA421939061 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c418009-924c-4bef-b2db-949dee712639 CA421939061 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f044657d-05ae-4775-8729-fb6e688f7379 CA343725112 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6193118f-72f9-4d87-904e-a7cf23948076 CA343725112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de002fe-fb29-4346-bfa6-c4b42d88283a CA343724698 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a88c393-04c1-4cbd-9f8c-0274abb18ed3 CA343724698 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d7d8b7-c075-415e-bd6e-757898fcfe57 CA343724639 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94201590-6589-4aa0-9494-cce1141822ff CA343724639 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a42d8c6-1a75-48fd-ac24-7202eea19834 CA343724203 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6b6ff81-8717-4660-b61a-2c0252bc2e12 CA343724203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3052f8ba-7644-4197-a8ca-a66d51475df0 CA343724007 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65ec4981-5706-413a-bf85-fe9e41572355 CA343724007 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a55f15-d1d2-4b3b-b171-dbb506bdbaba CA1244044 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70323271-4f0e-491b-b444-d729da1c36ee CA1244044 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231e67c9-7f8e-4512-8479-307b8aa39f95 CA343723686 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fdf2fb27-ce0d-4596-94b8-8ef9c89893cb CA343723686 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65cb1f7-b902-40cb-9072-4d8ede86e10a CA1244037 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38bb9284-2323-4fc2-9c38-4d329f2ab343 CA1244037 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6464d0c6-7a8d-461c-bff1-1b3e3286aaf2 CA343723116 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81e9ab57-37c9-4f6e-a666-00ca67c769f8 CA343723116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f141cab0-8e64-4d8b-96f7-44f8127697a4 CA343722865 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58d76d59-4af8-434a-8fd6-7037655aab28 CA343722865 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2113e25f-ab1a-4467-8cee-7448f94f581b CA343718550 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7104c6e-a47d-47c6-b9f8-2a8de880b08b CA343718550 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4114641-cdba-4844-9137-05b7783830e0 CLINVAR:293712 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0a4c8fa-b33c-49a6-9a62-b7368f18ca83 CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78eb7a1d-b40c-400f-84d3-7eca92c2f7f9 CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 525750eb-e6ff-4027-bdbf-12fad743e61d CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 628cdd95-4ea1-4998-b071-f5724286fac6 CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f2a5cc1-619e-4724-b560-18f78328f345 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34f648b-19f2-448e-8c23-886ccfe7797c CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb8ceb42-84f5-4b58-8739-21f6ce9a7eb4 CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30af81d1-4f2d-44d3-949a-9a4c36fc5971 CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8a8ed39-e1a0-44a8-9843-271a51f142db CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b5817d-1324-4773-b525-f3df5e344325 CLINVAR:224402 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b22db3fb-5aa7-4cc4-a915-6d0f9421792f CLINVAR:224402 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd9e5c1-1813-427a-b830-26961f9b36cb CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c73a643e-5f27-4c2e-b934-b2b580b5c20b CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea506ace-7fdf-4b8b-9654-ffb887d29998 CLINVAR:141972 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1dff0bb-34b5-4f80-9f13-a0a485c70b54 CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a23d49-ffab-4d26-bfa9-9e07af79f03d CLINVAR:830187 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd44beca-34a3-4f29-9551-e819d31f8153 CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d1b3e7-a13e-48f6-8d0a-698d05a3f95b CLINVAR:232594 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72fa05b4-2913-4d36-a5e3-fd1fff4b6aae CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd472af-caa4-424c-aefe-bd588ab30515 CLINVAR:492220 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 966f1ccd-45cd-4cbc-8d26-1de29909c133 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d4fca3-8be0-45ea-a8be-53e29f49a3b0 CLINVAR:944799 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdc6cb07-fbc3-4111-9237-3ae70cb9d1e6 CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954d73b0-a5e8-41c1-8d07-82b808d06083 CLINVAR:580962 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e273c377-ff21-481d-9d3a-569ee2ca1a38 CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d0025a-8108-43f6-8ed8-2c975ded9823 CLINVAR:241572 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c58776c4-33f7-4fc4-88b7-e71c484bc4f6 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86a124f-bc5e-4fcb-a8ce-1972ef0a9644 CLINVAR:657328 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 806950d4-b451-4746-97d5-dd37f87b103b CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ab740f-9bf2-4eb0-b070-6a46bb280d98 CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 111921fd-d33f-4593-823a-567dfe8188a4 CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d355506f-ca45-4e0d-a17e-7ef2616c2432 CLINVAR:185108 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a2caf9c-605b-4770-8708-5fcf52a5dcde CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1732464e-fe3a-4b0e-9da6-0d9e46f1d40b CLINVAR:126609 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ecf35a9-5548-4531-9b47-850f549b5fbf CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c2174d-db47-4eb4-a45c-1119c83cb081 CLINVAR:482029 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f64a000-7514-40e1-beae-fd49d77a9638 CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68df749c-616e-43dd-83d3-2264ac7232fa CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 464d7615-fbd7-4df3-82ff-85f5c5fe0dc4 CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf4591a-023d-4752-b647-55a0184cd1d1 CLINVAR:186990 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32477a69-36e0-4062-8943-ea90ae0ac280 CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3748bd7f-e8b7-4231-bfcc-8057d2d15e4d CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 515445d6-b6bf-4a74-8c3a-9fb19638a5e0 CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea84601-ffd4-4b27-9966-04cac4c9905f CA395121845 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 172d1146-125e-47b2-849b-c563703a2e14 CA395121845 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c061b76e-bb6f-4e81-9597-388adfc85377 CA915941070 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95945f22-543e-4e59-a7e8-eecb82c90612 CA915941070 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfe0278-56b7-430d-9b26-51ea603e1dd0 CLINVAR:187262 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 863a8932-16c3-4032-8e6d-0ac0cebc300e CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22dc64e-0ba2-4996-ab68-b7a1450062fb CLINVAR:232977 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5db219e1-b73b-4b33-b8ea-d4ffa3ddb547 CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da5ee02-4956-44b8-aee2-91a729827297 CLINVAR:126711 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce55f846-2b6b-4925-8852-421e96b23457 CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dab65ca-0ad1-47cb-bcfd-60999c2f56b1 CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 704fdd84-ffd1-4f58-b21b-0a737c49d989 CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20fc50d5-ed33-4fd9-85d2-abeef4ac53fc CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48b5cc56-8766-4f43-8998-952cc60a85a2 CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4cbbe0f-05e0-4e86-8284-ead3cba2d796 CA915941064 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f42b8447-a924-439e-b92b-bc7536e132da CA915941064 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffaafa8d-fac9-4f64-b2e8-b378de818b53 CLINVAR:128144 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 467f56f2-c8b6-46b3-bacb-3c0e8418699a CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81183032-f3e1-42af-9648-4715f0472902 CLINVAR:186820 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9974a6db-0f0e-49ae-9864-7b7cffa2dc37 CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d585a427-7c48-4086-b726-486fbb1a09ac CLINVAR:461007 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 191b4a9b-f7b3-40db-93cb-ec523335cf33 CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca71ae9-3392-4b72-8304-60441f593a74 CLINVAR:484222 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f20fcac-b87a-424f-96a3-17e29e37e9c2 CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13e89acc-6f16-4df4-b841-ddcce7188702 CLINVAR:241571 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a63d3483-83f3-489e-bb2f-65252c591d85 CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872c0ae6-d8f0-48d0-aef8-afdb2e45427e CLINVAR:410148 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25676e67-429c-4a85-8912-f7f736a9a28e CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68887bbd-ae98-45d6-afc7-6efdd49c204e CLINVAR:480243 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38a6b712-e359-4b36-8f1c-6bc4a2b8648a CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d63ae86-e22e-4202-8e67-491eb12a1c10 CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfacb8df-9d1a-41cb-88f9-e5879e76f5a7 CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50cb437e-791e-45b4-8793-78d385397c01 CA399790478 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8c8de38-ca15-4e94-999e-e40e2534faf2 CA399790478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29c44aa-b930-47fd-b945-095a819a9ede CA399805805 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f932498b-18d7-4b02-a949-ebb0b17438e7 CA399805805 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83d066b9-5877-4d8a-9965-c5300c6f164c CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc13792f-9c07-48c0-b54f-c6e1f4cd6cec CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a43362-3ba8-47dd-b3ae-fdc3cc3e98f0 CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e0c2abf-3c06-4548-a03e-b6d724483992 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fb82b4-dfeb-4ba5-b204-d3b80a4e6664 CA626379036 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1fda020-1ab6-40e2-814d-efc6a7b37ed2 CA626379036 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da50b4ad-664e-4a60-8470-20982c324b65 CA400028186 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c9f8b7b-7178-46ce-921e-57839edfbf62 CA400028186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af4b8f0-9d06-42dc-b72d-286997cbcc42 CA8622972 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c986c336-1f37-41b4-861d-ff1afaec0f2f CA8622972 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dbeac55-8648-4bb4-a8ac-5b3680f7b6b6 CA8622859 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bea32f8-da12-427f-9571-7f96105b7ea4 CA8622859 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6031d5e9-1ca5-47c0-b9ad-1c14d419f6be CA626684826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9637701-2e51-42fb-8c87-c98e832cd4a3 CA626684826 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a6df53d-6ab7-4f02-9ff5-bb28e231da70 CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69ab502c-257a-4974-a58b-5ae78c94490e CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6797b1e-007b-4ded-b90d-1a6f3624dfd2 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d064f5c-1188-4b6f-bbd1-b37e64206d2f CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e120a6f2-a9c2-4360-9ec9-9e3d099bca92 CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4429be21-0b81-46e7-8807-d77a2a800fa8 CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29fe1410-2bf8-4f3a-89eb-3f0db1f4f3e0 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 011f1b99-b5c5-446d-bf2e-cd6dba8ee224 CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2e6813-bc74-49df-9769-2508a7d20aeb CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 432454d1-a3c7-4449-8c67-ad3fcf625d6b CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27d63f7-8e41-454b-86a8-8ba5f4bbce5c CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bb2beb4-2531-4af6-9b6c-92b1c2521016 CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4351f059-4d11-44a7-9168-71dcbb2dfd31 CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04322010-aecb-4f21-913e-c2e64d2ccebd CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee43032c-8ec8-48e3-8e4f-c67bd30ca205 CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbf780ec-476d-48f3-9049-f2fc347287b3 CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d3beb9-8bd5-48b3-b44b-0a5d0dbbcecd CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a07eed11-6657-446b-a0fa-842d4f13d8f0 CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286b1aba-9022-4d83-9183-84619822130d CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 065bf523-3e42-4bde-b44b-da6c66e37473 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a059cd69-b075-49d0-aed4-7185f18f38d2 CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0bfeadf4-4d33-40c9-a71c-da45db319f73 CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd82870-146b-40b8-b80d-c7deab1f3ab7 CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ea9c4ba-fbde-4a18-a061-16217362dbef CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 778daf02-3ef7-490a-b6b8-1d6f7f55c811 CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e7b8f40-e01e-4e8e-a7bf-3eafb00cf95e CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c11806bc-40ca-430e-92f1-1a3e2e78b152 CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65fcc41b-2835-4814-9ba5-83f156157137 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf936e2-a0dd-4a0f-a8cd-39ab22a69153 CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f003e11a-fec7-4c23-8755-1b4a9095ec78 CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b032a34e-cec3-415a-a634-000e25f8a40a CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b51673b6-345d-4d01-a988-811152f22d83 CLINVAR:430740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9442be8a-e632-4ab2-ae19-1a5f28df9b15 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3741082c-48a3-472c-add6-e33b928d1b60 CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3d2bc1-547a-409d-8757-0fbbf804a7fc CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bf47e1c-d1fb-488e-9d94-ecb78ea4c43f CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c445b116-350b-463b-84e2-65b1dd5df36c CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 862cfb8c-3f3d-47fb-b4f6-d4f4e07cea10 CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43f0b456-664e-4441-bcc6-56b9e198f5fe CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 678f9b0d-0414-435c-82dd-fb71903e0ecd CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7199455-dc36-43eb-ab5c-f78453ffd37c CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 372ee008-11b7-40b5-a05e-fb73f0d580c9 CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582f9a43-72f2-49df-a459-75e35c15d762 CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2e5f6d4-60bb-40e1-ba78-d7f3d6cbf392 CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb73f1ad-68cc-49c0-9dd4-78e7dd9239bd CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ab3c1e6-9129-4273-bd1a-d07128e86349 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1560b53-9aa3-4b30-8489-bacc9cff2d3a CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6c7b193-6e0b-4aad-bfa9-93792314daf9 CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d279f764-5da5-4e08-a9dc-405616e1c2d4 CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a447e0c9-31ab-420e-9172-3f167c0f34b0 CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f06c2180-2cd6-4371-aa4d-87798496b1dd CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb5ce4ff-ed7a-4794-9282-9e5fac63d1ea CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0587b176-dede-40c1-ac75-8ce6b06b163c CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d8d1894-1aa4-4266-9e33-bed886708650 CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43103084-3b99-4352-837a-d6e5c98e7886 CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bf1e626-6171-4cf7-b2f2-e7b4f20a0e22 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9ac398-d7cf-45ea-ae29-f92b7a2971a2 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae055763-0745-4c41-9afe-a02ea718db8d CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4b318f-b0db-4a89-a3c3-a29365db98e5 CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd7ea03c-5530-4b63-ae9b-3df67528ea24 CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9372926c-6a5c-478b-8599-03b3e1311069 CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b5a7cb6-066d-4166-81a7-617c5c2de478 CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55fbaccd-8ac5-4420-bf3a-e13bbb57f995 CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8998e64-f7c5-45a0-8593-3117ca6b4e45 CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 661adfde-d335-4f50-a0db-d7aeb8949808 CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d9f526a-b9eb-409d-a7b6-22ad443ba2bc CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ffaad0-266c-47b2-940f-847ff105d123 CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b575c322-0481-4f25-b3d9-fa38f68a94a1 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f2aa67-4230-41ff-8bbe-cb5c04c469ca CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fad486a1-df3a-447c-8017-48e90db05fc6 CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a2fdfa-3aa8-4d5f-9ddc-b35eb9189478 CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0006e3f0-ae22-4b27-9d3c-21e685e414b0 CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2db31c4-e834-4153-bd4e-2fadc71378b0 CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c475f4ec-2ba6-463f-b356-2b19f1eae9be CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b5b483c-8bf1-4364-ac48-3a3da2b71d53 CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aab17477-0340-4247-a406-32697dcdf913 CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9addd335-351f-4e62-9140-8539b19aa827 CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccee9842-89eb-49ba-adda-3cba8961b40d CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34059504-c7ed-4c30-9032-b0ac6df6dd13 CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a339fca-cf8e-4ceb-a4dc-7fa5e95c81e4 CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23877ff0-8cd5-4e08-8bfa-a88ee3b2fdef CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c8b6736-e9c5-409e-b768-6e08c5b784e1 CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca9d89c-0cea-4349-b57e-8275d375bcda CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93d8f7e6-8d8b-4c6d-80df-4a5496c32d1c CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb3d0067-fd82-47cc-8ff0-1484405f2b84 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d546f0c-9ec3-45d7-b860-cee79d85ad31 CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819302b2-a9ab-453e-a292-813653fc078f CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbe74781-a582-4515-a5fe-dcd5b77a941f CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ce87a7-f5fa-4ddd-90f2-095082ecda3f CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a00a1f6e-f7e4-431f-80f7-6c28e48ba371 CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b1a55e-db46-43c9-916e-7f53b9749ce7 CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 452c6a1a-ac6b-455e-86e5-6bdd54c4d230 CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41750866-1610-41c8-ab64-124bd1f696d5 CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9609f762-7e3e-490c-bda4-6befcae4b523 CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6cdc2f2-2284-4733-a5ac-5e03a37b9e56 CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 831c75f0-61fa-45ca-81c1-cd9d28b8319d CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc353cec-d91e-40ba-b67f-e923942e3041 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0cc89af3-0c5a-4843-b97e-31b1d2743026 CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde1bc50-1bcd-4171-a89b-14a6695ea91c CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a044a889-07a3-4c5c-8a53-33894306f27a CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8c7c05-0330-4139-a9c6-5dc48f874964 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abd18e2d-7478-4316-9d11-0ecf7d5573e4 CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88979e9d-3a1c-4f4a-af2b-476566519ce4 CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c3ba9f5-7af0-4098-ad67-2dc0b1724919 CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36035d6b-0e67-47c5-b8e5-abd570357ed0 CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dba7fe9-cb1e-473f-9ac1-5f087b71a86e CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7adc28b1-3108-4b25-8882-2ac22a8c5d37 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4830a4d0-cfc9-4a31-8ea7-a892e532159f CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7156b2-8ea6-4042-b21a-7fbeddf55db8 CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7d081c0-ef93-49f0-8921-09ce5c3f84bd CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06696c6-57d5-49e9-83a3-d4962a41a5d4 CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fec4dab-ebc0-4bf9-9c3a-5812e4de1044 CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c11482-e775-4c9a-b273-c66f4698846f CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ceaa7ef3-c6c6-4172-8eb1-b791726bc9c5 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9517c8-4572-455f-b047-677c486be929 CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 841b826e-53dd-4305-a108-73e212549292 CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69483c16-517c-43d9-80f3-baddb50fc85a CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 572416ba-576e-406f-814c-9eff3f97d249 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9458e44-8e47-4e9c-8127-951a318c11a0 CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73ed2771-9f0e-421c-abe3-56b195ec8793 CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fba9f89-d8a0-4115-a831-6973a8e010ab CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 520b0f48-70b9-4a33-a77e-37b921853382 CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9ab8d9-bb80-4d8b-aac1-31355086d0ca CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd134db7-e719-4e58-9c34-a2168943437f CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7768a28e-1a10-4463-86ed-a132b65d1a42 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56750af3-d462-437c-9964-4ae5709a496c CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f78d56e8-5eac-43d1-96c1-7b9335d8c113 CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0edd0a62-314d-4836-b9ea-68757ccbd99e CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bbf5a0b-f5f2-4ca3-abb5-11c8af3cb6f6 CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e206dc2d-e3e2-4d0d-8b39-3856b0c96ccf CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7d9bb7-55e3-4ef9-a46d-e13449822415 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9be81f9-fc30-4be2-9c90-769c517e32f3 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309e7a42-48d5-48d1-ba31-6a0d56d30350 CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d81b9f4e-037e-4b63-98bb-06c14630477d CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4078d8d0-3d54-4973-9fa1-9dcbdd04bd65 CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15d34787-f80c-4133-a9a7-7d0f98432dfe CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f077e40-063d-4b6f-aa3c-7af16510934c CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c80d9ddd-d484-4097-b041-eec4738dd44d CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db0ab2b-4059-48d5-8985-501ab307758b CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2cb83ee-a4eb-4635-98ed-bb1b1fad0ecf CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c735e16-5b4a-4256-bd94-b9535948ec28 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 548d068f-dd17-4d44-a05b-10f1be4f18ce CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9696a5-bea0-4754-8611-143e1b10ab9c CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2946abfe-0ae4-4a43-a857-3cc49af4f6af CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdfac797-be92-47b1-aaf5-607614008424 CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db18300c-5d6d-424c-8fa5-b4ae0104ebcd CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb4d2be-5be6-4604-868a-82e79674044b CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 326a222c-e51b-4c96-9fdc-bfbd3d797000 CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf6e2b3b-a12a-40ab-bdc2-c0a133c83fc4 CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a544820e-cee8-496f-9d64-7a6328e2e32d CLINVAR:226299 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cee215-5047-4f0a-b89d-78fea0967768 CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f87074cf-80ec-4f21-8dae-78bc7b709cfe CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c79b3ec7-a67f-4052-ad8a-f1d8ff00be96 CA343719449 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cab9fa33-f073-4cff-b607-e1d99a6a0e55 CA343719449 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a443043-40b5-4b4a-8bc8-b3c67105ac29 CA343726991 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 929675f7-ef16-4c75-8493-17bb036c04db CA343726991 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29913797-792c-4735-8217-ebe44446457f CA343724686 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 927d452c-33a7-42a2-99f1-eab284e26ce7 CA343724686 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a82ab005-4130-4405-9ed5-b4feda2c9c3f CA343724606 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66218c9c-45d2-4c6a-a957-c0864ffa7007 CA343724606 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c05a06-6b17-4b3a-ba23-2882256c5688 CLINVAR:806282 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 930a875f-5874-4645-b8bc-cd333ec18011 CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7ce456-5bed-41ec-a946-bdd58e618532 CA343723939 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3de01c3-d003-489a-8313-55594c75a03c CA343723939 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ef693b-7918-4430-9bf3-ccc0d4bd839e CA343723671 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8b1fc65-c966-4539-bc17-23990cf85842 CA343723671 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d383ba9b-7e0f-43f4-888c-c28f3ace1159 CA343723526 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0af207a9-98ed-415d-b67f-9cccd4ba4611 CA343723526 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d553cc39-db2f-458a-a0ca-78b884c1b9b5 CLINVAR:875032 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6932a896-dd91-442d-b1c2-6d8b7a458b5b CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de8cbc1-8c2f-46d2-9942-d93835e68412 CLINVAR:1173106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e78a6e9-4383-4101-9391-da13af256379 CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6369bffb-00a3-4fe5-9437-397edc1f9925 CA1244341 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcb41b84-afca-4ea5-a358-6d43eb6b835a CA1244341 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5f6cea-ff2f-45e2-bf53-f43608434571 CA343722726 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2701588-732d-48a5-899a-6f54a74cc4de CA343722726 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13f5b54-b5e0-450c-9a26-4147ffcee0b2 CLINVAR:1048923 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 264f6d76-3041-4fab-a905-4db5aa9faa16 CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93123db7-4d6c-4ebd-be76-4eda89e9589b CLINVAR:1302992 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8caefb9b-68f3-492d-b869-9d6dc59642c4 CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd09bec1-141c-4119-a4d2-56c9d7be8d89 CLINVAR:877000 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99348182-624e-407d-8e59-e0523df2d44f CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddccdca6-2e25-400a-94c3-2c0e36c21c03 CA343723197 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f42e7f81-7f78-4f82-81cd-be552eac9825 CA343723197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604d41e1-c09e-4844-920d-9c5a26542587 CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2c86bc9-e2b7-47a4-ba21-d0c01cb44970 CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb237c2-04cf-4b32-b333-3d9202d427a8 CLINVAR:133976 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41b338bc-471e-44ad-9ac4-0334f0116172 CLINVAR:133976 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fefd8c8e-f74a-4c5c-ad14-55241cfd9d02 CLINVAR:242139 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48bef687-c725-4118-9292-cf6ebe99eae9 CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928170a8-a544-4439-a38b-b6de55e1786b CLINVAR:479634 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68671104-238c-4590-b973-57e60e71c81a CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1d75d3-8c34-4bed-86ee-01b66f3c65b0 CLINVAR:825798 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03d7e7f7-f216-42fa-820b-132fcd15903a CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888796f9-d8d7-4e8e-b96d-5c93ad7e2080 CLINVAR:825790 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce6f010e-3f83-4e6e-88d2-067816ec838d CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7e1c68-c2ed-400d-8fdb-ab3ec58e25c7 CLINVAR:825823 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80f8d4e3-c71f-4939-844f-471ca5434e55 CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cb3c1d-b573-427f-b7fa-f67d0f9bbd24 CLINVAR:479625 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08823695-d23a-43a9-989e-e6830cbd4052 CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2578130-6821-4e1c-a2f0-17adb7e35930 CA915940290 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a42d7182-54cf-47b9-83a5-7449a33dbdba CA915940290 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93668b3c-cf7f-49f6-a3bc-5210130095f5 CA399801154 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c36baabd-f227-480e-a45a-902769063c8d CA399801154 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3541c46-b8f8-4f1f-bd5b-f842855f803e CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc989273-38e9-4905-bd72-3455500f3e2e CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f2cb2e-61e0-4b10-b38a-5d7fdf3b4ebe CA399803370 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a88f4fc5-4695-4d74-9127-69f2a861f15e CA399803370 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdec8bc-fda7-47aa-b5f1-c02869ff2e8a CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8620c6b-386c-4493-92bc-231d0608a3e6 CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0a3645-e2f8-4144-8845-5dbace363182 CA399805578 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e16b3f2-c3f4-4d86-b582-9a2b74cc4078 CA399805578 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda22ecc-7067-4b41-ba0b-d0d55bc164bf CA400022111 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc24adbd-9d07-4507-9a62-8737748bdad3 CA400022111 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa068814-6d67-412d-a125-4f5c217f3b11 CA400033092 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b36e628-d084-429b-91d3-fea09f35e388 CA400033092 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a498916-f7dd-4c35-830e-5ea22f1ed902 CA400023428 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf38cdda-4dae-4aab-8a9a-0120d7d25e2d CA400023428 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f276ed63-921f-4378-9217-2438fe0e8c2c CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21f896a4-0541-4d3e-a0ce-58d75e2dd5b5 CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63f7af6-90cf-4c58-a263-77c998b27ba0 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de5fa660-7b30-4938-8062-02054fd773c6 CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b9ff72-920b-464e-8de5-d989ca81fce4 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b6fe829-e34a-4094-ac1e-fc4a22d589cd CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd425472-4572-4033-921f-f88cbab2dc21 CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b90ac844-f094-42f1-929d-f48d51522fd0 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9250ab-2a70-47e3-ace8-573d377847b8 CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c11832fa-a037-457c-9586-85cab5dfac9b CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1577a502-1e19-4ecd-b46e-551effd18d8b CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e36d23d1-3396-4303-b00b-16a8c7ece480 CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15050d4e-8526-4bcd-8511-d11584ec378c CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45c2be5a-b312-4742-ac44-ac3fc75f598b CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c69e27d-e288-4697-8e13-013af5534a58 CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00c20f56-fefc-41db-821b-e27e27ca0d29 CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b064f9-329e-465b-aca7-0bd60f40748e CLINVAR:1312506 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen efac20a0-5ba2-4be8-ab3e-61b6a4ec9599 CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd54c3e9-3e31-42c1-875c-e0a75884f720 CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 196ff1c9-611b-4f9c-bee9-f3b82d842126 CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c2beca-550d-42e6-ae5b-4ef3e07c48ab CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c8da601-6ae4-4d3c-83be-168320a3c971 CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe91d98-6474-4a72-866e-3b2e5cd6316a CA402994004 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8357c0b-b2e2-4282-ad1a-e86783542b18 CA402994004 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40f1aba-9dfb-4b30-88cf-35bc087eadb8 CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 113df1f0-e6dd-426f-988b-4b203437f336 CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812ebf75-8bc2-498f-a8cf-6be3f11e0991 CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39b1127c-1427-4007-813d-ff3ef4e41ada CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd22dc03-fe7f-4712-aeff-8dbc36e708dd CA402990982 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7955434-935b-4a09-a5d2-6fc8a5319b9c CA402990982 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9b0ae1-3f0c-4e84-ae4c-891299c9ff88 CA2579753928 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c76f7294-0d15-4d67-8fe3-83c208c75998 CA2579753928 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258b9c71-83bd-4936-9d93-e7b63eb1278d CA2499307108 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d88a560a-ea48-4234-bbed-661a54027e4a CA2499307108 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39372ea0-4b85-4e5e-bb2b-3a4c1de1b6ad CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6dd9b229-de8c-4170-b0a1-27480c37772f CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06fa7aad-4f76-4bef-93d7-ce3e2dd73f35 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6e3db63-e4be-49eb-8d32-8fb2c15ccf2a CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b396d8e-f7f3-45d0-991f-603be0cba1ce CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15a632e2-092c-4773-95f4-20231a7ebcd1 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d231fac2-6e36-4d27-ab3d-da1227f5bea5 CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc1482c3-b551-4df2-ae17-97f38b16ebf7 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f43a1c0-94fa-409e-9c05-c4d07d039961 CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 910f6e84-9d46-4eab-b80d-c81c6b43bdb4 CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae7603e-42be-45b4-a0b6-4070d4374fe2 CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd35f4c0-6698-438f-9a0d-01ffe8a28187 CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b194f6a9-b444-4e04-bf6f-fb0274970f90 CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 350f4449-ea10-4c7a-9b8a-85b9a0bb4961 CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade49e23-d5d1-4476-acef-c3185df22a0d CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9f0dd36-abcf-4b96-aacf-ca4878b4231a CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c042fb29-1c16-4351-88be-e1cab2937288 CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 914b74ff-f673-472f-992b-10cd892604d6 CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e887374-3639-4455-98fa-6e835781440a CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 748fa0af-fca3-463c-a921-4c21f61627b7 CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a1bf155-262b-4c74-869c-71c8760ec639 CA2573050986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3db89838-0800-45c7-bb68-20517af1dc13 CA2573050986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f4b5b4-75bc-45b5-bc82-06259b8e08f6 CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa1b14c9-8d9e-4c89-baa6-78026ff6255f CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8a5e1b-f707-4de6-8c3b-be01323c5a11 CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6917fc64-0260-4acd-b431-55ccadad7a75 CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33afbf1-6066-4a17-a4b2-f233ab890899 CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab153e03-a2c6-4d8f-a5fc-467731992460 CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15ebd77-518e-49f4-a573-0d02948a4bd7 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d357bea-7880-43b6-b11c-b884c28ae6bb CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbf3324-2075-49ea-87f7-e44c474960a9 CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5de5e59-058f-4f91-846a-ccaab348855e CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc166a3d-2e64-47f7-8896-0aa3be001306 CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed5228ef-176c-4d19-9a89-3ab3724e854f CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b8f9f5-9a7c-4149-8f8c-87d0cbce8380 CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87be84e0-d67d-405a-be81-179a017fd0c3 CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4313fe-8557-46e3-b782-92881bfeaa96 CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb64c280-9f06-4b08-9c92-19da09d5658e CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4347dc-7229-4e4d-9b47-d7b55b9b1a28 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce7fa643-ab9f-44da-9341-2b756081701d CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce8c053-d8f3-4aff-a88a-75f9bc638d3c CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fc22445-1d56-4765-a928-d7dc75dc6538 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9846abe-39c1-49b2-83af-371afe4eb93a CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b9bc3be-b857-4555-8368-14c8f02ab8c9 CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9a6f3c-4399-4370-a46a-dd2a6daf729f CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c7c9bfd-ac88-4249-bc5e-2900ba66cd5c CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a0ebb53-f83b-477d-b5d9-1523b9b81621 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88c20385-28c7-4c81-b4af-af664adae79f CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f01012d4-5cc3-4964-bcb6-01fb73e1a06a CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ecc90a9-ca2f-42a7-ba7e-0a4ca53d3aa4 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c64bc23-0185-4622-af56-a7234c0c7f61 CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a142335-3551-4922-b005-8c6a5996b6ca CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa0b7376-2ead-4aa0-b2cd-06ffade2dcc6 CLINVAR:875084 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee77720d-8a87-444a-9bbb-17e4a6313423 CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0587a30-d0dc-4a43-bd6a-fbf5aecb9ca8 CA1244285 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dad8a023-1ff5-487c-ada1-b471646ea9c0 CA1244285 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9e63bc-a592-49d6-9422-cd57e8191f2e CA1244113 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18047626-93bd-494c-a0cc-02cd22478c1e CA1244113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d062abc-ff12-4f75-af63-2b4eb75956cb CLINVAR:293710 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b4bdbe5-16ca-49ac-9c6a-2c555ca0ba3c CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32fc40c2-4224-4691-a1db-fbb7cbd6e81e CA1244072 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94c5b7c7-dd6a-4ebb-adc3-a60c45580bce CA1244072 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525d7601-6f55-4d32-939e-2ad99b2ec24c CA1244046 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 517f8800-eed5-46fb-8b32-98606c6988b5 CA1244046 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca2ee33-11e9-4779-92a5-5373ddadae8c CA343723639 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca5764ec-2e35-443a-aa7b-9b71f3397e1e CA343723639 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdddc7ff-5722-442e-ba87-e2a842571bce CA343723002 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb7d5e2f-fe82-42de-80ae-057ad6c86540 CA343723002 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e532e39-2989-451b-98d4-0a843eae9c0b CA1139771053 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe88e811-3880-471a-8297-ff75a99e8fca CA1139771053 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f4e46f-3293-46aa-811a-93caf677ccce CA32686049 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94a3c229-ea8e-4bf4-8327-3841131d1740 CA32686049 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7ab61d-4803-446a-be46-b6bbe837f84c CA343724078 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f50f1ac-b3a9-41e4-a286-a82182a55b29 CA343724078 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692c989c-f7ee-4991-a41d-27d186609cc3 CLINVAR:877041 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e434cb74-fd1b-4a0e-8933-8d44ed50971f CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c4303f-6313-4595-8690-d16c7f96e387 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19ca4e91-7933-448e-9bc9-1f11515b92d7 CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab5b681-2e7e-42ce-852e-efd92a510bc2 CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d22681f-0dec-4378-a3de-4566c31386fe CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2151fa-3fd9-435d-983c-80b53f9751b0 CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b5ff182-f583-44f1-aafb-d5578e7752bb CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3329b9cf-e68e-48f9-9c9b-2307e0d96f27 CA399806497 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29930a98-3e3e-462f-b973-98ca33ff84e7 CA399806497 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ad91c2-9d81-424a-bc71-0ddd24c8bded CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 210c7c8f-ed9a-4201-8c62-45aed7584f19 CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0ac1cd-a936-46da-93ae-87b5470f8d77 CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93ceb751-2b3a-4e8f-9964-d4dd830a55b8 CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d436658a-ec35-450a-b6fc-36078347bc03 CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44cbf136-b1d9-414c-bcf5-0433240a4193 CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5120cf74-e381-44c7-9bec-3aa2f83160f3 CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c3e46dd-673a-4fcc-a370-4e9f2e653f36 CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d2f1eb-6f29-4c14-8b3b-1311aa846489 CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4d849c6-c4f3-4fde-9780-57435b5c488c CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44ae3d5-543b-4d7d-8613-d74208304cd0 CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 121ba22b-ecfd-454f-a288-2165200fd415 CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2e96d5-bf26-440c-9132-1ee7b3dd9ca9 CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c029d9e3-68c4-495e-a7ab-51af9c8faaf3 CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01313569-5e56-44d4-87c9-d06fd210ff76 CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81d2f75d-61a4-4558-94fc-10e739b272ab CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c749b5a-caa0-4529-b131-51ed74a35fdb CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ce828b6-784f-4108-b2d6-ef742e0c2266 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963e0273-a51e-4dfe-980f-3830d325fabb CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eab9997a-3333-40e9-a376-b907312cc42b CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d19f81-08df-40b3-be41-e046f00dd319 CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc7c27a9-a036-42a6-b3e3-3b66c10f4566 CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ca27da-2274-430e-8afc-b4063c894fa1 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 877f020f-6e3f-4105-949e-9df24128fd19 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8120cbf5-7f18-4543-b978-db8445aa62b1 CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7138a5f7-41c4-4ed2-8b68-6601ebfb3e06 CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea789189-c001-4d15-b305-1bcbfc2e6f4c CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ede88274-f0ef-4555-9094-82cf09064572 CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e72dfd25-c3bb-4a54-84fc-e609c4da81f0 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f77f08fc-1771-4f9e-845d-22973ce14deb CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 442978b7-2ec2-4051-8e64-59bb767ee895 CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 827f21d4-17a1-4a26-833e-6e29d2e02df2 CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b3ff31-f1d8-43b2-9bdf-2a636a4fa6ac CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ed753ad-6f58-4e15-9669-9dac4932e939 CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a513054-a6b3-4f4c-b187-1c464065c1e0 CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bdc28107-5382-4e5d-9308-503de097ce41 CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a10dc9-275c-48ac-940d-7ce11839a7c5 CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83c3b8dd-1f04-49ab-912a-dc775aac9ab8 CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ae9e5d-87eb-4299-bfed-7703f1a623c5 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9552182b-8401-4852-b8fd-edbe2cb824e0 CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1b7255-e25a-45b1-83f6-a4eb3996d284 CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2367fb22-0513-4c85-9d23-33de4efac1b9 CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace60571-19f7-4052-b399-f29589c17d86 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2572c24a-76ec-41e9-9398-81be3da721e3 CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5d411d-f7aa-4480-81d9-f1b5d6a11bd1 CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6537962d-ee02-4a45-80ae-563ad980116f CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17023acd-773e-45ad-9325-9a6fc35620e6 CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1457208-fce6-412d-a83c-5bfe43befd01 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5f76d8-c3f0-41fe-987d-a78f98d38cff CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f4b01e2-f9f2-4058-a7ca-a6a09f4aa33e CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9cda24-92a5-4915-a3e8-3670e660620c CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7db8f6e7-a833-4575-9bda-3c3c09e81dff CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ecb4918-4b86-4741-ba16-2fa6a6b56b6c CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0c68718-0711-4bce-a289-6d1022dd4f8d CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591a4d6b-8066-4038-b538-e57aa137643b CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 490d680b-512c-47c8-b722-b42856c348d6 CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b41aabe-0da1-4d87-a3f5-0e0aa8dd8df6 CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e20e3ab-7174-46f7-b977-01efe79fabbf CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73cc105a-33a8-44b6-84ff-23009c137b70 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5124abe1-002e-40b9-9e59-3b18180fa468 CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bdf5997-7e26-4c94-bf5a-b62702acad2c CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7bea068a-8910-4c90-9529-21ab87ad03b6 CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75be822c-6b9d-40bd-adba-36ab65a3d83a CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b54068a4-5c55-4676-8052-ed00ea626135 CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ec63dc-64a3-47d8-ae9f-d2f8c7b53d7d CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce661720-560c-45e3-8425-137752565e69 CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4110864f-9ded-4957-a5fa-0df936d9b6cd CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31a1e1c8-e688-43e8-8eec-b524c0695055 CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a6395d-be99-4619-9f01-8621e99635fc CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 251d0157-6423-4f3b-8985-9f9f2d6de8d8 CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa44ad6-5326-400c-84ce-bde0408d3a45 CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50158f5d-7e2c-4480-99fa-4d153331977f CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a2eae0-9676-4db3-b5db-6579de2e82c7 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23d58f6d-420b-43dc-b4c4-78495e6d5393 CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fca19a3-0387-4005-a32e-51e1315aaf41 CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c7b1cad-d176-4ba9-a6bf-2014245b1c28 CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5065572f-1d2f-4415-a2ec-6c0cfe363f5c CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee6fb808-b962-480c-9c94-8d6cc8feae62 CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d7de4db-854d-476c-80a0-f74c8585e55e CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36a62c9c-608c-4701-8dde-f3ae65eb5048 CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e7490d-b849-45ab-a89f-94d4d1948153 CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95f60401-2bba-4a44-b49c-adb98ad6bc65 CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73777fb-2fbc-40aa-8966-527176aa8cec CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89f00857-89ae-4504-9e25-8e3b4512be46 CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e8e5c4-75e1-4e65-9e04-b59a8d2dc014 CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4fc328d-4961-4a02-8f57-04dcf8ca6a60 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d733f5-cba9-4ee6-9afb-2e21c76fe3a2 CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b8dfac1-c270-40b0-8c55-39758845317b CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a68cb6c-11d6-4b8a-8bb0-2a28c0b0d6e9 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e97d6602-5555-4fdf-8496-46622442e0b6 CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec512fb-f7eb-4355-ae3b-dcf0fe9704a8 CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f03743a-a1d8-4ae4-b47a-abc7bbb0317d CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ea8d45-eead-4ea9-9240-9c54afaad54b CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6b455c4-609a-4ecd-b0bb-75dd33244fe6 CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a83a323-8947-495a-8114-112ba64fdf1e CLINVAR:390176 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fa715de-98c5-4973-944a-8fefa3511a64 CLINVAR:390176 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb22bb1a-5c6a-4bc0-8cfa-c6e7d418a2a8 CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cccfd92d-278e-4dc8-b8fe-fb6930ab75f9 CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd66c265-05e7-4ed3-9fa2-d71cfbd8cd19 CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85ec4e5f-d9c1-4a85-9dcc-5b8557501fb9 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3526395b-cade-4b91-b882-77a4eed23afd CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26e5e75a-bc17-46fb-a5a0-bda47d05b0a1 CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3e5712-8c7b-4907-ac28-45face06414f CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fa60224-9f44-456b-864f-03587c9c3e74 CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799f0b52-370b-4273-ac4b-78c05e226e0e CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee96d6ec-f1c9-41fa-a507-adb43073f42a CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f161b50-0187-430f-88bb-d5b15af0609b CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92924f5b-1dea-4153-a441-063a3d3714dd CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9e5e05-1da9-4f05-a313-7f248612f96a CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78f1d8a9-2ac5-4c12-ad36-e89f8f0a5cbd CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19586227-5740-4dde-a917-5b074412bdc0 CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 561a8ad2-e2b2-4936-acbf-79954dc81cb8 CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd4be4d-7803-4b1a-9068-a2c9e147ceaf CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc8b00ac-8f2f-49b3-9434-71666dbec1f8 CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 848877e8-9eb4-4367-b079-eadc97128b82 CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22e6c50f-8fa5-430a-aa3b-ad6d5e93b052 CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87837739-5e55-4e0e-a259-25889bdfbb0a CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06a9a4fd-0a13-40fd-a69b-d7ed7baaac43 CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b967388-b896-415e-89cb-e71bba39e93f CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045fd3d7-aad4-44b5-98e2-f541b145f454 CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8cfc09e-077e-49a1-ad5f-4b359db2d240 CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82f75e64-cde3-4ceb-b808-b0ff11778f41 CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c564a752-9ee2-42b7-803c-421969e2e8cf CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8b44645-c21e-4edd-b428-d383fd17891e CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27648ddb-32ea-4cba-a73a-9787a5089402 CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adba33ec-e329-4136-9aa9-3e831851e851 CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd655bf4-d610-4ded-8089-53f2988936a3 CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b044b2ee-edf5-4aee-8dc5-2614f37336f1 CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d552bd7-ca6b-4fb9-8142-df21258f6729 CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be517509-869e-47a9-b6e9-82f2e1c745b8 CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c2cc35-561b-4a06-97a5-4bf70bd0a1b1 CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f97a1f52-3487-4e52-9e1b-e496f3e4599d CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c25e65c-dd6f-4180-b178-27ae9d185e47 CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e68f6d91-8cdf-4ba8-baa8-70479c7ebcab CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c432ea-99f5-4a2d-b028-db593b3e7a4b CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06f67638-bf12-4b94-a8bc-fe70b887301d CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af880d93-c190-424d-90b9-e84224c40bcc CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86af4a2f-60b2-4cd6-9602-8495f64f477b CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158f885b-fa13-4306-b2a7-80c91f29c57e CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9e7363e-b272-49e4-a2b4-aa8e23fd064e CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa3fca0-2ebb-45f1-a0e3-444997b5c620 CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d92649c-62d9-49fc-812a-2d22934f5af8 CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e68aa7f-0878-40a2-8231-42db9c4f8cee CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0096f19-e5ea-4b11-ad55-72bc1e5751f9 CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc1f8a3-5861-48b5-a669-5f2af673a76c CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d818283c-191c-41f6-8bcc-067e58cde90c CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08139f1-4d70-4e83-b541-36205027c705 CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f1ff558-c76c-42c4-8127-0f692f71afad CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3529265-e93a-4e3d-ab3e-3090736e26f8 CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1f5aaf4-1201-4c2f-9a1b-afc8363776a1 CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbce9f7e-281a-4004-82c8-07b95e44fdbb CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7117a83f-afcf-4aa0-b523-bd21bb0a17a3 CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d11d6a-428b-44f1-8c3b-1bf92c5a5356 CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f6ec7a8-6f9f-4d6d-85ef-ad097cb27fc9 CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c980402-df2c-44fd-be70-8f800d5180ff CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b5a6a13-7b52-4a34-9d74-a76dcf750eea CLINVAR:965068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c139476a-7f6e-4625-b237-f4a32b5ec7c0 CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac2fa40d-20b5-4738-8b32-b1961690c6c9 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8abf1f-035d-4b51-90cf-47a6fe906bf3 CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75b7ffa8-55a5-4e38-8418-63fb1d69b731 CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef19f6f-9bbc-43ec-88c0-f32a19bddf52 CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8bdc5a2-003a-450a-b113-d1e5a7198c26 CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49667ed3-02da-4524-931a-e6d8756dc267 CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46303aeb-ccd5-4b5c-be4c-42e6721f9b63 CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a317417-c036-444b-ad1f-d2f4cd24034a CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89092a63-ebe4-4264-b8dd-5e33769e9b0f CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909a00bf-4e24-4ebe-b919-6d5110fa51af CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5b0ca2e-8f1a-49f6-a613-9b913b374348 CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf696b5-7007-472f-85e6-6c1dc2fc2b5f CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 97101c09-81d2-45e4-9bb9-c5ed3c4ae71c CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a1cfc10-83ad-43f8-83c0-eec020b3a84d CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 140b58f3-5971-4978-bf63-044a04327e56 CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c3ad01-1591-4f8a-b1a4-9be3f3f3a561 CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b8eb5af-9318-416a-96f6-416f61e9d5d3 CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfbbd43b-b45e-4144-bedc-2b065e6211a7 CA1244149 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f29ae6b-8793-4069-92e6-2a790ada252c CA1244149 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1cdb56-8690-4026-8dc0-a777904bd70b CA1244148 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46d7df1e-4b43-4f9c-8875-337b6a54b472 CA1244148 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c942e5b-7412-432a-8e0f-646c144555bf CLINVAR:1698736 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96bb9344-3996-40a6-ad75-1be79b460768 CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e342200-4cfc-49b3-8a99-5b42e342acf0 CA1244099 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28540d19-b8f4-4579-81a5-d3c7aa419704 CA1244099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5350f920-48cd-4ea2-bc27-49fc69b6cb05 CA343724527 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72441abd-ab0c-4f2f-8ac0-7193d2f0aa6f CA343724527 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06c34e9-f3dd-4707-a11e-018d16c851dd CA343724521 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7021329f-e33b-42d1-9bb4-cb86766b574c CA343724521 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d907ad-6cbf-43da-bd92-69511f5a263e CA1244069 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d13b77d-b0fb-49ee-992c-3b475fae9202 CA1244069 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43de0eea-416a-439c-812b-6a5cf666719e CA1244068 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af8b6cf1-1117-48fc-ae0c-b6e9ea49280b CA1244068 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305c621e-e379-4d9e-88a9-6a6740691f7f CA343723421 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d914d401-df22-4078-b56e-f8f793e81b3a CA343723421 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed79345e-9cd5-4e00-a858-9c5bb92d9551 CA1244017 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70abe15f-7927-480a-8c38-2684a83a6fc8 CA1244017 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9141401b-a78c-4e71-b177-84c7b441c2bd CA421939232 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee7dccb1-779a-42b8-9986-171c7bebda52 CA421939232 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d57f8bc4-2177-47c3-a60a-eeb19b9c2b00 CA343725024 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba48f615-93c2-4d61-beb3-a563dd888de7 CA343725024 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c90656-4b13-49f5-b197-6ed47f243d76 CLINVAR:625855 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2e5b580-372a-493c-bc6c-64b75b0c4a16 CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf070a3-d937-4887-82e3-808ca95a6831 CA343720209 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71d774de-b85f-4493-9590-e325500449b4 CA343720209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afcd719b-ebc0-4815-93ce-a24f05337ae7 CA343724106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f28af7d-3d95-4200-8951-530f78d5987a CA343724106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49922918-e3e6-4b38-bc0b-348b98a7a563 CA343726305 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76f1ca27-726b-4f70-833d-a623962b2f65 CA343726305 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe20b1a-557d-4eca-b7b6-b6ef587ca744 CA343726308 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb6384ba-877b-435e-abc8-17b6f689dea3 CA343726308 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332cbd9d-29cd-424c-9fb6-d9ef92ee382e CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 967ca448-dd0c-45a2-ad04-6cb006205a5c CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ecd743-cce0-48d3-bc92-c62a906fe5b9 CLINVAR:2169517 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7afcbf51-6622-411d-b265-3b7c4e31fada CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e1c627-3981-4112-b283-9625f6f20aae CLINVAR:1522625 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edcc25fd-5a47-4fc5-80a5-f989b7f7b2dc CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1e83e4b-ae81-459a-a6a4-5fa0823ed539 CA367398617 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48c0778f-976d-4783-91d0-1a8e5c83e4e2 CA367398617 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb055103-132c-43cd-93c3-db16383fbbdf CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e97e4da-7d32-4a38-a360-2fc5e12c36ad CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d3e344-ece1-41e1-89e3-2e1537b84f22 CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a3d3c26-325a-406d-97f6-dc3522d0d2c2 CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e7f323-d092-42da-8426-48771fed58aa CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5824ba1-b6a9-45ff-8151-1fe79e8a9ebb CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6017370-008a-4d92-8836-2908a8af4592 CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a4ecbb4-85b7-4d4b-abe2-24462624ce85 CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5748633-2553-443f-9c77-4a280cce90e9 CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 830bd862-db09-4a89-96ca-7a862fe2438a CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7a3f32-f4ad-44a5-b881-61b22160312b CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61e85aad-28ae-409c-b620-d38ad4f8d467 CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e86dd5-74d1-4ff1-be3f-5071a68cacaa CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d753e4a-5970-4e47-8af7-7811e1234c75 CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ee8baf-9454-4620-a266-46c01664f50d CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef176733-8c98-4b86-8fb7-ecc7d43423e2 CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe0b2c1-6dbc-4a70-b100-4fa4ea8a446f CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d7b31bd-7d10-4c99-baca-7ad682593e72 CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf24cc75-8f35-4b54-8730-8bcdde5e3ec9 CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05e29df0-9526-4fc4-a665-961387bfd61b CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a00ea2-c614-4a13-ac04-8db78e613602 CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31281aed-a964-48ae-a940-e61d9d7c75a4 CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c827504-eb15-4095-9e5d-a0b25482d768 CA2573334965 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff282277-bd8a-45dd-bf9b-97892635bf2d CA2573334965 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bcb6ed5-4674-4eef-8cd6-4500d56ec8da CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60f955db-b4b9-4ef1-b47b-8722108eb23f CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56691fc-733a-40bc-a6de-db2612de37cc CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 693b4c0f-a12c-45b8-9756-9a9e8f6285ff CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51256a2-089c-4c03-addf-034a1a57d7e7 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a517685-949a-4b2f-8ae7-907fabdaaaf5 CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde88bfc-edce-4d46-9540-fc487e2e8c4b CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12ce31b2-582a-4751-a223-38ab8b50cbc9 CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd021c0-7b43-4644-ac59-c06e16667c90 CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12969213-21de-4ca1-bea1-d3d7aa53b265 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16867416-515c-47df-be42-3c3ad4ee9c96 CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 735592d6-ce3f-45f3-b038-4c0db2fd9288 CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20097c5a-4859-4c16-970d-53e89a165ea3 CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 775fc7b8-11dd-46a7-a1fb-83f724df26cd CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e76f2e-393b-4e8c-88f8-27806d4fc64e CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9e2a8b3-d436-44df-b61e-98f5ff49d567 CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8e6d19-a85f-4b6e-b0e6-04115b376adf CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f894ea7-fe7a-4a6c-abe2-c9a7907c49fa CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 083a0314-51d1-4bdb-bcb3-bf04594ca0a1 CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e5f2f16-1f21-4591-923d-0542d4c2aff1 CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2fd1a72-3896-4f45-ba1a-62c507f3ea8a CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2dca23ea-8d76-4362-abc0-ab0eace69d45 CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbb941c-bab7-4874-95b8-34e4ab251407 CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b066de18-dba8-49b7-bbfd-34cbdcbbd8f6 CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b52072-2b54-482f-8dfe-c5a3362016c0 CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfb6f08d-a5c9-48ef-b5ea-12ebdd49ff78 CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f543e7da-15f2-404c-87a0-7921cec29fb2 CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfd4b97d-8236-4cd0-b03f-6000fd2a9cd4 CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408512ce-d6fb-43fc-a426-c40b805518f5 CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66602f40-7475-464c-991b-e90bc92b35ac CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9180d6-b7cb-4e86-ae6d-42684985dd6f CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72a6bf53-e817-41d9-98e1-445c0c81e1e2 CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952d2d65-c46b-4b56-aba1-f63cfacd44d8 CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c95bf38-cbe7-43fe-b245-aeb76aca624f CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c1953af-5877-43e5-a4e5-f22178416fb0 CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 339e7453-5ebe-438b-88d5-d4e802976469 CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20b0bfc-465e-4a7c-ac22-da92e47333cc CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a01510d-b0eb-422e-ba72-8b022ef1abe6 CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08eea858-acfa-44eb-a786-08b2de80bfe8 CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87746510-7d20-44bf-bccb-6a47008f255c CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9add58cf-7950-4ee3-9572-5434c95753f2 CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c16d93f8-9ef1-4374-825b-f97b9c347daa CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c2fecc9-9ffc-46ad-abd9-42bf80dcea1d CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 106fb035-2322-4ee3-95ff-8c23385260cd CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74b67b0-0bd3-453b-9208-ae77836db44b CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c7632be-273c-4d81-b1d4-040622511fee CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811b2a7c-52b7-492c-b4cc-3d0cdceec36d CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f7a8fb7-1d2e-4369-a600-f52bd0f4d1ab CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88fac1e8-29b7-4f3d-b862-e0a092361a59 CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 917f9ff1-4de0-4eb4-8f3b-195aea8b0c00 CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d17382-4b5d-4402-91d3-717e0010c514 CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12f57d5a-b33b-4496-82ab-ba436c7c72d2 CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 345420d3-6d84-4337-925d-6c857fa3b5de CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76cd548c-bafe-4d26-9847-1b5813e139ca CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee65adbe-4480-4040-bf5f-6f4c4bf461f5 CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0989c0a2-7bbb-46d9-94b0-3b549b7c87ce CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca2473c-924c-41a4-bb9c-02acb2dce5b4 CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7adbbb5f-c54b-4bfb-8bf3-e11cfc442209 CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e36b38-d0d3-4701-9dbe-9b35fd7cd452 CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53898c9e-eb33-49e7-8a61-b8c4431ea585 CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f2ac68-e3d9-4a31-ac1c-ad96bea3472d CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33130145-50bc-4ad6-a7fd-b05a606ef3f3 CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38116530-bc65-4c43-b8e6-600a7b9981d8 CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f9fdb05-311e-4912-b325-a513c41b9854 CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37599dc0-3e5f-43a3-9810-2c71d02fa1d5 CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2319d1c9-3700-49c8-bca9-b53017619a1b CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4a91cb-9654-4bd9-b2d2-dd2dd441430c CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e828325-4bc7-4744-b462-7913e3f7b575 CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0300841b-3929-432a-b3d1-2ba8205de374 CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa12fa71-6c69-4169-8209-e4c213f01982 CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001d104d-e646-4e91-a051-e542cc6cdb31 CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c6c3922-79ae-4a72-b531-57ae0df352e3 CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d127672-6d76-419e-9ac0-fff2f373cf39 CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55159639-75fa-4fbc-814d-78e08a37210a CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c31f5e2-d7da-4f29-b268-981803c94e3b CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e8c45f9-7e06-4f76-9c09-0187c5c780dd CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85048d1f-bce5-4653-8d3a-1129397a0e38 CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 807bd1f2-c862-4444-8b16-2ac23802af0d CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54f5f8a-5d40-43b1-8a85-3a7fc37f4758 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7b915f4-f0b9-4bc0-b5c4-c0c17eb49296 CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7f511f-416d-49a5-a9c1-9a62f083dddc CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09f0566d-e85e-48a5-9c17-4ee3f5098255 CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac372b72-10d5-4e8f-ba84-5c5efe41a3a7 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 021a50c5-2791-4394-ba28-e5c3fc188e9d CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dfcd75d-65ca-4b20-a050-600340b60f6b CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1bd1db6-73c4-46a0-8746-9f988a206f98 CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b473b81-243e-4f0d-a811-2a4beb97777f CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e65a9592-10df-484e-b0bc-0bb09e106dce CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7574491c-d01d-45a6-84dd-ee33298b4bcb CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38f95c9d-000d-427b-9676-9d40468a11df CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5769d6e1-39d2-4350-95b2-9366cff6e8c0 CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a4aafba-9019-4a71-8ebd-279426fcc303 CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e3adb3-4b89-4868-8b70-6bffea213943 CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3493355b-2dea-4441-b55a-96259d41c3b4 CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e78d39-fdc0-4dc3-9f45-c68d4b11cbd9 CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e44fe85-3dca-491e-9877-d710f538df4b CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e782bd9-16df-4cdc-824e-78b29b925ea9 CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bdb2f93-76cd-41ad-b624-09a0e2562088 CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da24ef3-9f3d-4640-9350-d86a470e4921 CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 850872b4-cc76-480f-8745-80a8abd9b19a CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff2d923-bd4b-4e7c-b578-6a4f46ea423c CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f4cae0f-511a-4784-bf62-f649e4e5f189 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65269f0-0d1d-4357-bdad-be3a3f4de855 CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4d960dc-3637-4747-b2da-85c655d8f006 CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08c81af-d55f-416e-9b6c-2d6ee3fdde58 CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da223387-feec-4dad-abbb-6dba144e6fe5 CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3bdfd07-84a4-4f34-ae68-96141eaa496e CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c45d9c3-a9d5-4103-86ff-658737f36607 CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee27a091-13f2-4c88-8208-fd561d0cd970 CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f806362a-f37d-4ff2-b59d-9ff3d3115308 CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb6ed4b-0937-46cd-add0-27c81f0d1b38 CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61395b29-c29e-4ad9-ac31-2334f511cc3c CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90cd86b9-685c-46de-8f63-aae5e54dd533 CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e0314d3-ae69-416e-afee-61af5937624d CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6927740f-3e2e-4db5-8b42-adf4fa7984f5 CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 058fa374-74a2-4f89-a3ff-6769cc7fa632 CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 101b6d81-9f2f-4190-950b-512597ed9a78 CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0ef5ba6-8d18-4897-ab2a-09900125fa41 CLINVAR:692767 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fa67240-b190-4df1-8ba1-05f4c5811a9b CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fdef8d4-cbb6-4c32-86c6-bd9205d97d9f CLINVAR:228859 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d459038-3423-48b6-8ef6-95502b83e857 CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48655f6e-f2c7-44ee-b65b-ffb2df9b5468 CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f72337-119f-476e-971d-0ce7b54f239c CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a034d32b-90c4-41cf-9b53-8e068487e79f CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ba44eb-7eae-4715-8ec5-51050a7d384d CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 510c22c8-10a6-4e64-8b3c-26869b53faff CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dd969fa-6b8f-4340-98bb-8f9a259589f2 CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29bd6f85-2924-47a2-a24e-785eccddc421 CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4c1ba3-086e-40e4-aeac-566735963d32 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db982396-5549-4475-9229-ef4fe8063c56 CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3472317-795e-44fe-8689-54cd47cf0259 CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b65084e-96d2-470f-bf1e-cc857eed55f7 CLINVAR:584516 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfcc909e-b53b-40a5-9c7f-380989a04bbc CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16225d51-0cc7-4635-a2f3-0dfa0cfa0320 CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b47060-e641-4709-8fac-7916ead27ab2 CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38c656e4-2680-40e9-92e2-7059ebf5f2bf CLINVAR:235370 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e6d110-5fa9-4806-8332-00b1c60e8a11 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fba34aa2-79d0-480b-837a-cf0f29ce5336 CLINVAR:377369 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56879f3d-1e0e-4370-b0f1-f710a951e112 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48cb3e94-8e82-45c9-9122-ceb6bdba1660 CLINVAR:439912 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2890f74a-e2b7-4e19-ad2e-74d3f4e38b2c CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7271b165-ca8c-473b-92a0-2500f8628482 CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1dae000-1f55-4aab-bd1b-0f3e028dddf7 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 917ab7ec-8e15-4968-bca5-5e076e8e4814 CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23cc7c18-1b93-4b00-8dcf-1d543fae8215 CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c63f8bb-e8e5-4b46-bfa5-2c87533440f7 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0451f109-5f64-464b-8c47-219b92c0d657 CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b23080ee-024d-482a-8e0e-1fb1613b4259 CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ceb414-ea2d-402d-9dc8-91d302bfb30f CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c284d801-b3c6-4627-acdd-1e1219a5ec8a CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e326c544-3cb6-4f60-a45f-675e55c39d96 CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96324605-541d-4d05-ab86-8d085c0c798c CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4129917-2c11-47c3-bbb5-bfec46c1254a CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c148f56-7a8f-4f78-b92f-f01c71e92e36 CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ea97ed-ecb1-4a65-8021-6b5739d0bf06 CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b929450-b4e9-4195-aadf-f1cbf709b5dd CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa8dff76-e1e8-48af-a98d-33d9785a12e4 CLINVAR:2575092 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 459470d6-9f3d-48eb-bf63-72145c92fdf6 CLINVAR:2575092 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1176f6ed-721b-4dc5-987e-3bc30eb23eaa CLINVAR:7953 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f14bc7c-bdb4-412f-82da-4e6cde2cf1c8 CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301d707a-c129-4044-be34-d924066e49ee CA343724143 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a1bc0a1-c56e-4f49-9a6f-2092a5bd0be2 CA343724143 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9fdb3a1-dc5f-40fd-bb4a-d17908b54d76 CA343725177 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f1d1222-b14c-475c-8eae-269ebd56298d CA343725177 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52c2a4f-4d4a-4f2b-9b85-319376b241b3 CA343725131 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea89a395-3fbc-4fdf-b27a-ceffe2b65c7f CA343725131 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbedd4f-b1f6-45f5-bdc1-4c28f5bd2342 CA2017997725 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8a7911a-612e-486e-9112-e858a7e9ff10 CA2017997725 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea112cdf-861b-4a14-bf2e-78e5aef62d09 CLINVAR:875033 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad5f6ecc-a627-401a-be59-3e029dd4d944 CLINVAR:875033 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379cfb9b-bfac-4262-a26b-0bba4d8f3952 CA2573130348 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 744bc509-1b98-4ba3-9c2f-6f930690a59b CA2573130348 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37c05fb-ce54-4324-9d49-5469c7a1b0ae CA343723562 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99711ddb-a016-465d-aa47-1c362b6b6db9 CA343723562 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e764f8a-2a9c-4e96-a5db-725106ec129f CA343724581 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e4338c4-8c71-4d48-a9f2-a20747dde680 CA343724581 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08088d0a-73d1-4c61-aa6c-f2e3dbe1c995 CLINVAR:293722 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8427351-9dbd-4984-8f2c-5da55ee631b5 CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b2d5a8-9ac6-41fa-8704-a214fb1d55db CLINVAR:293720 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb674264-5f51-41aa-8f5d-c4f380b2035e CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee855a06-fc4e-4e33-86c1-6c23079ead2b CLINVAR:293719 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3c08758-dad4-4cb9-8545-d817f1147c3b CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae8e825b-4fed-415f-a02c-75c074ec7f6b CLINVAR:875954 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c60a217-58de-4eb1-8aa2-e2d226f9a3af CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d23bf19-5062-4021-8de4-006ef13ae711 CLINVAR:293721 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47953392-4c51-4294-8189-0674804b5abd CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbfb505d-2a16-4d54-8de8-0adeb33e0137 CLINVAR:876999 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b8f1f9f-947d-4ca1-8aff-1f56010623bd CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758c769c-0a3c-412b-8644-795754dcf467 CLINVAR:293714 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ec84c19-68ef-422d-b1dd-f141c1d2435f CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5a7ea0-345a-4de2-8bd3-87ca02e67908 CLINVAR:252960 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8da8649d-1d92-4df3-b0e7-35b00851e5f7 CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7fe071-dbfc-4a58-aeab-a7bd9d2f1933 CLINVAR:293713 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d29fe9e-eff7-4685-84f0-8d62b3fc0d1d CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c694c17d-b338-421a-bde0-fc25ba3e58ea CLINVAR:242274 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e93237d4-883d-4a31-9726-b4bdfb90deba CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6121aa8-a48b-4c5a-b78c-334182edee09 CLINVAR:1324770 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53c1ca37-7491-4557-9b06-afb891336912 CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33d569f-a70e-4813-9a79-7df24dc91ad9 CA343719128 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 907a60b6-3df6-477e-b9c9-b8e785fec21f CA343719128 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec63d6f-fbb8-4121-a53e-b133b1653bec CLINVAR:631579 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bc11167-9bb6-475c-a678-ba1f0d70d466 CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d80545ea-41bf-4846-9f0a-8be82747624b CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1f81600-7843-44ee-886f-665af8fd525f CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0151f2-b3c3-4260-991f-532b85b84d56 CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e37889f-3844-4a31-90d6-9299c02e471f CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedc597b-1510-46c7-be8f-fca62d71c7db CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c4a7f57-fc05-4142-b195-fb004b944e83 CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca7125d-7a62-48b5-8770-82bf347ce438 CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d4b098c-f15d-4e7d-82d3-2e52a2aeade3 CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2a2fb1-3707-4f9d-9f9f-166e1332dcc8 CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82658dde-c377-4b42-803f-40de22a8f6bd CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c8e03f-c313-4f22-aaab-87d37ab604d3 CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 399d153a-7d4b-4853-9e32-ebcb943bf764 CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dab833f-f0b1-4b14-8de0-5c87deaa47fc CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f950565b-aece-48d7-9a75-5984abdd2d1e CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fd2efc-8ac5-4b58-8029-ebc96554cfd3 CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e1f6cb4-6bed-4a7e-8d25-2e70b08a3822 CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d7b2a7-e8d8-4055-b6fe-0e064e56a73b CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48258cb7-0486-41d6-983a-0835836b8a9e CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21ee416-4138-4761-9570-334d84f3f15a CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48b8bde6-fa79-4b62-bea4-642790fb739f CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8981913b-ad73-47c6-975e-2d3bb5532fc7 CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47af029e-f31f-441c-ad24-1057e1d7aec6 CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285abbd1-b456-4c5a-a67a-20b50ee3bbd7 CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 986ffc45-f17b-4416-9863-aa8fd2c639f8 CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d79779-9acf-4b10-bc86-93e021c43f4c CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0cfbe537-8ef0-4216-991f-2b962445d466 CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f969c88-f501-4290-aac2-670daba18854 CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 477363aa-dd16-4206-b393-c2ee1e151953 CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f39d22a-93ce-4af5-aa89-af7fd50ac792 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70066c49-436e-4c87-8d11-e2ae1b9cf0aa CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b03e5455-9a02-4bc6-9172-0ec484e59ced CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b20645c-d0ad-49ac-b6a5-4c765bf80f96 CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295faa84-bc16-476e-8fc0-06e47189a22f CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fceb8743-c301-4686-8d7f-f07c0c5584b1 CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357fe73f-8961-453a-b83f-d934926a9a53 CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf724467-a97a-46cc-ac9e-432002b73644 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe4c51f-a4b3-47e2-a428-e3e45e0ea94a CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9927d51c-dd70-411a-b248-a87033fb7e66 CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a183783-3d84-45f7-adf6-af1571213ce4 CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3abf4df0-038d-4b3d-8617-cbd8614929e4 CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0c8004-e145-43d5-b644-d3a7ef260d58 CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88dfa8a5-75cb-4124-bf7a-bad80fadbdb1 CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66b87e7-9619-4ab5-8296-fd150ed32513 CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77bb70f4-acdd-4ac7-ab77-603a63bd9eac CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c195ba70-fc94-43a8-aa74-790a40f3f1de CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8bad44df-2e2f-41ee-b787-ae2ed67738b2 CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcb1581-94a4-4460-b582-84397fa93fe9 CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6368dac6-8ae9-448d-8d47-3a43110a221a CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f0fac9-5ed4-4625-ab95-c4bba8b2f333 CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a763908d-fff3-4bf2-a0c4-ff82e70345c6 CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83732f7a-f6be-4a37-998d-567e8f95cfec CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e918e9b2-6d9a-497c-8c3b-f78680a8ffb4 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c66fa7cc-7fae-40ae-a0f7-82f70c5ecf84 CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45efc692-e9d1-422b-85ed-7d16445453f8 CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176751dd-46ff-481b-b1f8-3433115cbc1c CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fd12d8f-7ab7-4ec4-9fe0-ec6e1eea75fd CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516c3ba6-1122-4321-99b8-7efe47e8900f CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9ce805c-941b-457c-b51c-e22b8fa5aa88 CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4723e0a-264e-44de-9b1e-177d1b77a81a CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2359bdac-274b-4538-bb65-eed4eab29d66 CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd4986b-d0c2-4de2-a145-6357d85f5d73 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 388f4c2e-28ed-4735-a635-d65eaf6534f3 CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0547048-8a10-4e28-b2f2-98abe8cff22a CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bf430cb-e9fd-4534-95fa-4eb5e6a0e34a CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e613423b-68a2-4351-93d0-de8ce061872e CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2355be8-3496-4d4e-905b-227ee5f11ad1 CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e37b992-571e-4806-995e-7f3b711b0df5 CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a76fe0e-fe54-41ec-8cf3-40429cb28fd7 CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6d02ab-7ae3-40ef-afb0-2ec07f9c47cf CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6e2ce7b-24b0-4203-a30a-55656d7ff6ed CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55266f37-f548-44e7-855a-3f247d1926ea CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 728c0b38-c00d-48df-b382-11bab1c64eba CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3403cc22-3a67-4a08-9c36-889165ba5ae5 CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b052cce-25f8-421f-aabe-2b11433025d0 CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8c9ac8-51db-400c-b0fa-a8eb72b5023c CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c4f591f-f307-4a94-b045-7055a2c380e3 CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a857fb-c14b-47ec-af1e-f0513d904d76 CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00f1f23f-f250-42c9-8ab3-6013090d52bf CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62448bd8-c1e0-44bf-a3bb-e25b95479c48 CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b4c50ad-9a78-4c4c-9423-c8a04fac4ce7 CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f65b770-2301-418a-9799-8ce8b9f0c230 CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aea7b1ef-73aa-4432-9e3d-76f06c75f0c7 CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a88236b-1a0d-4015-bd25-d052db43ea82 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f8a2b13-64a7-43b7-9cfc-5159de197a26 CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3525394-c86e-483a-8e5a-d0d94bd51f1c CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a38c1f55-84e4-457e-9205-91ffa0ba3b7d CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eec351e7-1c26-4806-844e-4217483daa67 CLINVAR:2578344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10cde879-4a26-4156-abd9-445467a0710c CLINVAR:2578344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5269e3aa-dede-4d68-a285-71945796f03d CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a10a8df2-6311-4bf7-b598-b58124359121 CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e02ca9-8c88-4868-b2c0-963776cbbd0d CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74bd8afa-2752-4bab-becd-0a08df33cb15 CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe1df3d4-64d2-46d7-aeab-2c2334d408cf CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44128981-5eeb-48c2-9d2b-1e2ff4e7530b CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955aabee-6121-4f19-97fe-1d4e42f11f11 CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21418038-65c0-4663-99e7-56efcef94b0e CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6dcd40c-ba44-40dc-8cf4-ce9f2a87f436 CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cee1bce-f0ff-4898-82c8-01f3878fe841 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46731189-d53d-4d44-8bd9-2a22f1920e59 CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2a8a681-1ff7-437e-843d-fd9bb21ece92 CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67cc6e46-4c09-4a68-9dd1-b29eece6da1a CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6cd6312-a9e4-4679-bdc8-776b5ed8f081 CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d2373e-b56f-41da-8399-cb0f8cac8fc4 CA367398536 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e95f563-2543-40bb-838d-cc4334c9b4e1 CA367398536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4eef68-70e7-461f-bddb-d35576627f9b CLINVAR:1301416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e19b50c7-1a81-4974-8415-ddc9baaf9c41 CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e7b057-9f4d-4750-a19f-e46d6ac04572 CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66cc9396-fb08-4a43-9c98-3eed3d1ecc89 CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483594ea-70ef-4f09-8652-d11816e89d97 CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28fa5f9a-eb50-4a6e-a218-01220f687e02 CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f9afdf-2f20-4948-ab2d-f1fd8c4d3ddb CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c9b97b7-099b-46c1-857b-e5ec7ed736c3 CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90545905-cdf9-4242-957b-9dcd66fcf307 CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4ac1f53-e297-4bba-bdcc-bd72a104ef6b CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6916c13-0fa5-4ffd-8510-80337daf6eb6 CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31694bf2-9ebd-4478-8a90-361b093b8ee2 CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cc426a-e420-44f0-8fd5-9556827f80ea CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee25076d-9a8b-48a6-a8cc-10e584c68772 CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba510e06-751f-4b88-9cf8-b6ab1d973c63 CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c710d3f2-74b6-4e84-a003-756a64a10f93 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af12aa9e-5102-40f5-8fa3-6054fd2bed6a CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ad41787-dd6a-489e-9880-431e6472cdfc CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779c89cb-0355-43b6-8805-7d4184378e88 CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe3e3e64-8d7e-4ae6-8020-cdc00d1b4d87 CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a448e32-ddbe-45fd-b9b0-6e4edf393f1f CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25a0dd17-9c1f-42a5-8c08-913e7a53d793 CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96cb9b52-169e-4f11-a19a-6432d0952502 CA915940789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6059e37-0755-4da6-b38b-04fb9e28e958 CA915940789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e919c7-6e15-41b3-81cc-8b166238da98 CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89caca8e-d76c-4c40-9a20-e01dc579fa74 CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad9cc26-6163-47fb-b365-767a83b72245 CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e4f4466-b8df-4241-8ad7-e8b9b98435e2 CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e2be5c-1294-4b0f-af63-8a96ff7c2e46 CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2be27a15-b87e-4885-813e-f2379b88b822 CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e2715d-e517-4057-8ae1-47260de4fc18 CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77264756-1693-4b3b-ab35-eca9d0d9e1db CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7429b719-c01e-4764-881c-1c8188c9ee4e CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3c6a4ce-d16c-44dd-b73f-cb680ed2ffe5 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bccf4a06-9fa5-4d37-8498-fd92349fbb60 CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e6d7fe3-0ee8-4ed9-bf9f-7f216dbfec5b CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ed8983-caf7-45b7-8bfb-b1e7b059437f CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d0f52e0-5045-4222-80d5-e34b64c3f9fb CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d11a7d-07c6-47e8-92fb-46e956d38794 CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52d15cc7-ba26-44b6-842e-90946cb5f0b9 CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbf7542-e81d-46d5-97c8-a151059522fa CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa000faf-717e-4e75-a239-dc76b87fd751 CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c293f9-4270-4e78-81a7-502bd8feeaa1 CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6347ef95-eafd-4a0b-8dc7-f319f8ceea7a CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f2861c-334a-4f71-8431-3a143e029b89 CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a211b66-4b02-47be-b5c2-fd3da3625ad2 CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35be5ac-4c5a-47f2-bad3-a957c3de8cb6 CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15158acd-8d1e-42aa-b575-268d09302c6d CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4fd17a-e988-42da-90d5-b7c1249c8230 CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 057ef5d3-464f-47b2-8684-5108d720ee80 CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240860fb-f83a-4294-bd46-f93533222efb CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3083debf-406c-4dfe-9f41-22bbf59c86da CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80751e18-909d-4b4e-845e-1114419520b2 CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f04473fd-f974-41fd-a387-ea8c8cf8b93a CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfbe5730-3bcf-4a5f-9af5-e71eaa88945f CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27af0602-7c5c-4c19-9ec9-9e129c7bbe6c CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80fa915-8fe3-40e6-9d52-a1607ccfdb51 CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bf9ed5f-7f73-4075-9163-119d34cefc03 CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6bdc8f5-f9da-4497-99fa-66f315e9399e CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01f1a887-1689-493c-b555-233357e72b4c CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3843c0-b9a3-45a8-b208-4e4bd23383a0 CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 331e969f-c3d2-49f5-bc5c-ec6dcb87dd45 CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8299092c-6cf8-4147-95a6-686849665b24 CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88bb0cdf-ee68-4edc-ba9d-dd4ebbcb3032 CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c49ef9-c753-4ebe-b162-9cef82cf0f7e CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8710e02-9c01-4347-afdb-510bc629df0e CLINVAR:2581126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baff8cc1-dc71-434b-aaf8-e0397c92c798 CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a39fb97-1365-460e-8bf8-2d64cfb20a08 CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf99d28-bb52-4b3a-9f37-bf586f85d238 CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6af78cee-9f78-4561-81d6-fc7b379a77b2 CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9437372-bb8c-431f-8027-2097f1ffc650 CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae0d0b23-c9e4-445e-af6e-3555eacf0d4c CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f251d6-135e-4286-90cb-1b1ac3b3e728 CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adbde2b7-5042-4ce5-afe3-de2f0b242675 CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c66f3d7-6732-4545-b7f4-e065c87f99b2 CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1f2c4df-48b5-437c-b0a4-adfd94e296b0 CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d992d275-e06a-485f-a8c2-496b3cefa652 CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87011fa5-21f3-42bc-8120-eb6dadb8c2b6 CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833f3ebb-6d4b-469f-af09-98c4b49ac5e9 CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b7ac3f7-29bf-4888-898b-a8ce929de40d CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632ba652-0db1-46ae-a1f3-69454363d3ec CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9de5d371-1a9a-4399-939d-a4d40e7a4bc4 CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1135e5f-0681-4e8d-8ea7-35588c7ffbed CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 132ee54d-395f-41c5-9819-e32dd28245a3 CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29993265-83f2-4c41-b402-678ee1daa625 CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c5cbdb3-0345-484f-b0b9-8fef3cd38ced CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d781bcd8-01b7-45c0-9012-02ec894a7ce6 CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef28f824-a310-4856-a192-64897b23e2e2 CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cf6a065-11d8-4d01-bfe5-43f9e3b3cdcc CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a2ad4b9-8cf5-4022-9be2-46701a960139 CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2253915d-9166-4a45-9655-c67d4ef75319 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36b5e24b-32cc-44b2-967e-721e7115773e CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa3a055-8262-48a9-bc24-9d045aaf9939 CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e57a91c-dcc7-43a6-9eee-9cbb773926c6 CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16edfb3-9a33-4d3e-89af-de051cd548f3 CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e015cadc-d7fc-46d6-b8b5-95d9cd04cdc8 CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e492bfd0-7927-40c9-9ff0-cce76cae4f31 CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95afcc56-cd86-4487-b209-a026131c72e0 CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58292363-e6f6-4376-8547-1bddc324e68d CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2c47065-3aa8-4718-ac02-9c1115eaedaa CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0061026b-3e69-4f55-8ad3-f4970f669d41 CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 381e7ab4-3872-40c7-aea2-c6dc3696c3e8 CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1adfdd62-2f4c-4918-a9ae-351ba35bd50f CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a55a90d-3024-4185-add6-aac4617af997 CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c9f006-d91a-41f3-b7ff-5399d3a8a24e CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7932eb09-9072-4c41-88bd-8dac744a8bd1 CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a261113-c7a2-4629-9239-90e2ec333fdd CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff962e30-244d-49cc-8921-3ff2d2e1a61f CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321a6393-648f-40be-a730-94c6730c1ee8 CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2e62d97-778e-4c94-ad62-7641f23b0124 CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe17d290-b7a4-4b64-b198-e89e08438bff CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bd075ca-b6a4-4fc4-98c6-4a2e933f9cc3 CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f23e0b-8b6b-4901-8e28-c23ed1f9bd65 CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27cda860-b829-4b78-93c5-5f751e306b82 CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0811da62-c30f-4436-96b4-15f831b21bf7 CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14265cf4-f9fe-4e2a-9cc9-37a100a5bbc6 CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ca2a3a-e024-46e4-9064-e8a3f46eb42d CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb660f2f-5a25-499f-80f9-64492843bb5e CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8791874-0cb3-4b66-83b9-837f3664629c CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f18ef76-2034-4c95-ae05-1628f8c0a01e CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa54697d-49ad-4320-8ded-cff81834422c CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2e1eeb0-e716-4e76-9ced-13c67a7fd6ca CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8c17be-1815-4b3a-a3f8-5540ccb35b10 CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d78f9f4d-24a0-40c1-aa33-0eb883c3d83c CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b729d9a-26fb-4472-981b-3b98eaa986d8 CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01199e60-28b2-43bb-a0ce-fa719211521e CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047b1ad0-032b-4937-8dfd-4b0392a25472 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c397bfa-395a-4243-b7ea-4738f3fe25eb CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0640a5bb-b7b5-4ee4-8057-4b3d8d120d00 CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c821ee9-1774-4f08-95a6-781424d93e85 CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dbab9e-cd2c-460e-a00a-ba3bb23ca9da CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c80ce312-f7ae-4833-ad0c-ae5948c9e0ea CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea923cca-6e7e-4ad4-a15f-0b41d1e93883 CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67aafeeb-a973-402a-a979-dea1d07fb3c4 CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd358d8-1b6b-4ed7-8a9c-a183842187c4 CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af6f235c-581e-4fbd-873b-adcbcfcc1864 CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4ab5a5-cb4b-411d-8bbd-55b93e083407 CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 991343a9-f5b7-4b1c-8c35-1858d8ee6662 CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d91932-8424-4da9-becd-4d323e9fac9b CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e8d4b61-6049-4ddc-9168-e722d8a20334 CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87fa424-8ec8-4340-b8b2-17c44e7531a1 CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9836f01d-0668-4a63-a853-8a3164a8e462 CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7cedca-aeea-4b44-bcab-cb0042c76498 CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31f861be-d56a-40da-b322-fdbc55a3e588 CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453502d6-652b-4c9d-bcc5-d60e6c50b8fb CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90b15b1a-2b68-449b-b571-7bbb31f3b9e4 CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ded20e1-324f-4dd6-b6b1-ad9f45eff5b6 CLINVAR:431973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b35a25a-2627-4de0-a721-f3f1a8ffd1f5 CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179fc35a-a318-4ee9-952a-7799eca43844 CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d279228b-463b-489c-892b-cddd55f1883d CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7a97d4-7a90-4375-8893-b09fccc7d8f4 CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb0f786d-4644-4f13-82ec-b4c6064e24f7 CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076e8760-ff89-4fe5-91b3-ffe2ee5bbb42 CLINVAR:55607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8089e98-00f4-42d4-8680-7c6111b57215 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980546b0-ef5b-4e72-96f0-f1917eb2bf92 CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 977e9a34-95f6-4c96-8bd1-ec3e60e0fc49 CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a93667-0398-4d33-8e59-2fc3ede6d74f CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9aeec4f7-5632-4077-a92d-504226f79fb7 CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b2ec57-2036-4fb3-8d53-d85c7bf65b44 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0527f26e-28e7-4c91-9c31-d73bde07847e CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ab5a85-1ea4-4005-b95d-a9ebe69178f9 CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 871033d7-a129-4ecb-a8cb-b9ddf33841ea CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa1bc7fd-f0fc-4bab-9bf3-d562b8b7b7c9 CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 709c4c7d-7b98-47e2-9392-870aec12111c CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c1366c-32ed-4705-bde1-5c4f6f7a2c5a CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99c8e466-0c4f-4568-9c54-3fff7ef6192d CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e1f483-05f2-49f2-8da4-1a6b611acf21 CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e318cdb3-12cd-4fd5-ae8b-e609b50c9f2c CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c753245-2a3f-48d2-a164-50427daf28dd CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca60a0f7-0adc-4f3e-ad4a-f1a5e82be81f CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1a300a-0e69-467a-966b-b06c4e84d57e CLINVAR:546808 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acab85ff-bc13-434e-be5a-b5ed60220f17 CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b6a6da-6de6-4bcf-a551-446c492178cf CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d187d98-f026-4194-9380-bf7c033a6d86 CLINVAR:2664365 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765709e1-1bd9-4f15-92f3-569043b6dc68 CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 782d90cc-8fac-42bf-a5dd-78ddf28d77fe CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a646292-fc8c-4b5c-9d70-6695a8dab791 CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2514f197-c376-4f68-89b7-5cf2ab99440d CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a600cf8-b392-4f15-85f5-1ab4322e5306 CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3e48614-0fad-485c-b5cd-71d86046c997 CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8b8d4c8-012f-402a-91c0-372a15c9f695 CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 269c930b-cbf7-429f-ad25-d0cf7b4b67bc CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762b0c63-8104-4ef4-803e-2764e2bed88b CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dbf1ae8-2fb3-4d25-9cd5-17ef81bca5c9 CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ea8b33-272c-43fe-a441-03a57d6827b0 CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 185c8cb0-d008-41f4-97d4-64c8d929c2d5 CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8585f833-e4d9-4023-a660-4054ba7055c9 CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67d04e0f-9baa-4d61-b89d-6d7efac501df CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8bf701-2f5e-4a92-93f3-1316b852cb8c CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41d70fe9-5870-4028-bac5-3e284c542d62 CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89fd36f-8f3c-4415-8517-ae1aae8d5b3d CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb914992-2c46-4280-87d8-b0e36b72a31c CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70050beb-0b21-4953-a48c-a99c73f6446e CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0ab4cb2-4763-4ab7-b7ad-b74709d18784 CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913e0f99-7d63-4141-b92b-f6daefa4fde5 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83cb35d3-ed9c-4a24-a454-10aa409cc30a CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd409f51-0e0f-4420-8fec-cd3f0c1f5919 CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65937391-fe85-4c2a-88c1-d7b9718239e2 CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe9af2d-f9a5-4ceb-b260-bea54fb9667d CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1458e707-5d2a-41ec-a6b9-6f18296d26cc CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8654bd92-efed-46df-9d07-032e58022f3a CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af471732-a1f0-4d27-a053-8a103e3c51d2 CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59f6c6e-2e46-423a-bddb-15ffb0b3eccb CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a2e73fb-f4cc-4ae9-b3e8-0386164bca74 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17840538-a24f-4dc8-8f61-89a0c0b555d9 CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00eaeb6a-f619-4d2d-8474-96cf91c664ae CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad9ba7a-cab1-4fb0-931d-9e0daa58049a CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 53b0f4ef-f920-4104-9a5e-804287c07a77 CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5c08d1-bcb1-440b-9536-a7820b9ae3d1 CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fff4586-fc59-4093-b20b-e4b222f8bfa4 CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d513c129-f3b0-4a92-b2c0-86101b5e7070 CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5feee0a-59d2-4126-b641-7e8e784e7262 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f93266-12f5-4bfe-8296-a486a4e249d6 CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8d11ded-3ac3-4f9c-85cf-2e92aa685f0f CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbfa8d2-eff2-41f1-bf65-20d6888906dd CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 066aa744-e286-4ecb-a62a-9014ce12c688 CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dcb69e6-fb12-4953-aa75-05e741c5bc81 CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39d4a6a6-28da-4b19-9905-350341965cba CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d57de7ce-b38f-4a4f-b744-47a106ba89a1 CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bef9cdb8-c1a2-4a66-8b7e-7284861b1924 CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb214888-53a8-46f5-a953-b60f510145e7 CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 523fc5d3-b72f-4cdd-8f7c-f2813379bfa7 CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0eef248-aab7-43d0-9be9-af8c03572968 CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e551cb13-2530-4820-80ab-f78df662ce3b CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6992783e-17fb-4475-9759-abeef659d7c0 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75dd664b-026c-4fae-ac52-8969c9e5bfa6 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3896e1c2-adab-4672-bba4-a877297b29d7 CA500273575 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cb74049-2097-4507-a1e6-8aeb49ac6b56 CA500273575 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2b911f-e280-4cf1-9c72-2e6d5cd864cf CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d2f20e2-d7ff-4358-93bc-4f70ba5d6010 CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8fc092-89c5-4a7a-9a03-94169c8afa6a CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e46f35e7-9aef-4ecc-8c3e-7958c5f51ffc CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a03da625-b83b-410d-986e-58349b4567e2 CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a06c003f-6ef9-4427-90d6-b24becba182b CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5c44fa-cd4f-45cd-81f0-60f8df376faa CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3752a0c2-1720-4bf7-994d-fe8f9f0a7da8 CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad305cc-0112-4fa5-be23-9c64f9478ba7 CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 567b00dc-155b-4dbf-8c36-de6da96dfc40 CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2552a564-5ab1-46ac-bd44-cc62c2432294 CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c46f93ee-ed6c-494c-b578-ac90b022ccb9 CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a170ec1-0892-4972-ac0f-3965298c72bc CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 811ae62c-24cf-4535-a667-82a12e7a3886 CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901f0b04-1926-4758-a507-a0bb8d138688 CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d98abe7-a831-4a7c-ba1b-4fe047a1768c CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31e89dc-4431-42db-b44e-b98993c054df CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ecedd14-5b56-42aa-a797-414174e47002 CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8e98a0-0c42-467f-b90a-41f00e595da7 CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen acdc6d25-7c0f-403f-8d9b-8ab1a88c01d1 CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f8e29d-3a75-469f-af1a-b408777373f9 CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2fa17e8-905d-41ab-9947-2f2abad2c41f CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7eb6f88-f521-4550-a994-c4aa9e207608 CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad4c0d7c-ccd6-4267-ad07-2b0337e9681a CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c7a0de-4035-4813-848a-2a79b40247d6 CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53b010a9-52c6-4b73-a268-f51b479882ba CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5e7eb1-102d-4b37-8107-d4298f467a43 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66329364-36a2-4c92-8d65-8c27cd4c1e8f CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1043ec-3dc6-42c4-940d-1c41b9457075 CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0163ef24-c8aa-4d3d-af34-b0fab183ea15 CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8108a017-8918-46a8-b10f-c5b1092134a5 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6fb9b053-f598-4b63-896f-a1d4ab518e59 CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e678764d-fa78-4430-8745-fb29cb58fefb CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94044de9-48fe-4e85-aea2-87f83c12ae24 CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca603cc-76a9-4ad6-b2c2-8e3ff8228162 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02ad4a69-398f-42d1-91ba-9d00ac9d8b31 CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ead0b5-7160-4564-a35c-4c972c62974c CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebeaeb74-3433-4eb2-9ea2-977df7c9c7fc CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e732c3-84ff-4516-86d8-f820b4ef5779 CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 725e58a8-3cf5-4329-9b56-5823bc7e1e00 CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b20854-f8b3-4695-8532-bf3f9501dda1 CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3f7e0b7-d474-42ea-b728-60a99ad86573 CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5a3153-f738-4c50-a4aa-a1694aab7e6a CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 889fc1c5-ede3-4539-aa9b-1ca1da1ff4e7 CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2154d5af-53ce-4eed-a957-a1e6f88fc742 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31ca2f8a-aee5-4e3f-ae4b-911c9bb89217 CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 045558e9-0f44-49eb-a82a-1ee048eec963 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2db9ebb0-dc99-48c7-813c-ac5d1568fa46 CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a544d5-4c72-4973-be6d-358141c493c9 CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6c0f3d5-fbfe-47cd-a97b-8fd927aae72a CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5fea19-c307-4f5e-be95-7b70ae4eace5 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fd3e5ae-c1f6-4e68-ad8e-720adf6f54c1 CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8743ae-786e-43ab-9876-b828c75db397 CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5da478bc-9ee6-4425-9faa-e895af90c2f0 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a710988f-7499-444c-9121-de85ae292c72 CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8dd7905d-3fdd-4aa5-85d4-6e495420f460 CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a7d82b-eb71-4000-be85-ddbfd6030649 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a20638c-6554-490f-b230-487efe705168 CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22983de-5517-4262-b13f-dd789c283da2 CLINVAR:888827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7ab3bae-2cfe-4b7a-a1ce-5eb210ab841c CLINVAR:888827 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4feebe50-3de5-4ac1-b40e-058d20a4857c CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9c9e0d4-e757-48ae-90d5-d21d9459ed0a CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448054ac-f5c9-4679-8710-7ef67f8a385e CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46b45c39-1fa4-4854-9da7-b6a0106b8e27 CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8461afc-af6e-42f8-a212-e1d560bd00c1 CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71d366bb-a01f-4063-b352-f81ecbf44f60 CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2080e627-5005-4225-a887-551b1375bc48 CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7a2baf0-b40c-41f2-aed6-1b680f6be8ac CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd5ddc8-dc6f-41e7-800d-217b3e4c022c CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00d72056-9071-4bd8-8728-676e8de7a797 CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee3fcc9-dcf7-4f28-ad1e-3ccfe6cc685f CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30c8c7aa-d2f0-489f-81ed-9a8bd9d81087 CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabf2096-d500-4a8c-aadf-420507ae7fc2 CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ef4f743-d1bc-4250-a52c-1a980aa9e1d4 CLINVAR:370043 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f54a38-2389-4173-95ac-4de50babd248 CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e4c4459-8016-4c7a-aebd-07cb0ce93f62 CLINVAR:9717 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282adc7e-7fcb-4aa0-875a-ce1234ece920 CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdc69c7e-4a7c-45c3-9869-15b84871fe7f CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e414cb-87ab-4150-a034-7c7b8c7c93db CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 300d919f-1528-4de8-abfb-41bae4ebb3c3 CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de65c1a2-ce0a-4a24-a4fa-68d8442a212c CLINVAR:760913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9879d2cb-6fb4-44f6-9ee0-58d7020fa589 CLINVAR:760913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c150e19a-b343-4020-8c6b-60187b782b81 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac8fc687-d6ea-4e65-9417-f2cc226c9e3d CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0620c0-30ed-48ec-a78f-286b3b438908 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7e3593b-8df2-4e67-bef6-8c7ed02c7c3b CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038f10e2-6139-439f-a982-4b267e72b9e1 CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aeaba75f-e08c-4089-8dba-2b317db5d045 CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f12911-fe72-4ab4-9cee-b8b4069c5d0a CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 808487ec-913b-4c6e-9923-778247f2b273 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25f7c37-24d8-4a8e-91e0-22a1a3349373 CLINVAR:415829 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e26d10f-1216-418d-a839-01686231c1b4 CLINVAR:415829 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c65435-f780-4196-841b-ebab12ff0456 CLINVAR:464013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfa6d958-9e2b-4969-ad72-69f1126353e7 CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f43462c-56ad-42b4-8a95-21a796b92791 CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 590dae6d-0571-4602-932d-e2c741810ae7 CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1beb606e-290b-4430-809c-a6861f05f8d6 CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3ecc7b6-fff3-437e-9e01-da7bc60967a3 CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7087c3f0-cc6a-4ccc-9651-4ddabbdd36e7 CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82583eec-231d-44e5-aeef-be25a47bdc87 CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff8a9b8-be39-44fa-b20b-f0f1e6d56b38 CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f1a8bc8-2875-4072-b12f-1a52cdd0fccd CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5eda9d-cd29-43f5-b121-d118688fd2d3 CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69f67040-e368-4b68-90e0-7a7bb71a4716 CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0f1504-ea00-4979-bb39-6aee9d2b6af0 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a54edee-b535-4781-bcae-72625ff44032 CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0128b3a7-ef15-420b-b985-8378d4dc304a CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8b4720e-acc0-48d1-b487-3dc4a0b13f3e CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1967d95f-c86b-42ba-82cb-a511b7464be8 CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46de4b6a-3ddb-425f-92ee-817c278148bb CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc94fefa-dac3-4fa2-bc2b-c79bc5e28556 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00712522-9c2d-4950-a109-e8e1dedf6955 CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49fa4a90-2d2d-469d-8137-367244f86f65 CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b9f686e-c32f-4848-947b-2c92634a4546 CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c3d528d-6621-49bb-b2dd-9d8f001bebce CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5767ba9a-9ab6-4c88-ad43-82d40ffcd179 CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a968971-0bb8-44a2-942f-db022b8a13ae CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 430ebfd8-1dd7-4e26-a269-00d6e964c99a CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f700fdb-60cb-49b9-95b4-70e5fab5b1c1 CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b93d7768-0770-49ce-a412-09aed0d88b65 CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 569c096c-efbe-47a0-b0fa-e1743091fcd4 CLINVAR:1336352 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d782e81b-df17-4943-b50b-fb4373444bb2 CLINVAR:1336352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ceebc0-6a95-4839-ac5e-66c9558620fd CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87af0e36-68f3-4527-851b-1532eb45db4f CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f52804-1ec2-4936-add6-a561bd4c1f7b CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 200f135b-c967-48cd-9140-078990475114 CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1801363-6a27-4923-a307-e03a4f4825d3 CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cca9a94-5bd4-412f-b20a-8d905986504e CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82635c57-fe72-4e4c-bebd-ef82a00fd546 CLINVAR:1652693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18cff07d-171f-4c3b-a49e-6a5ee68d1292 CLINVAR:1652693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c91a7528-23a8-47cb-b5af-bf44b68e1385 CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb60c53d-fa34-4631-8ba3-7bf5ebe882f0 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61acf5fe-23c3-4c64-81ae-e66004c65c43 CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e947d81-d77a-4da9-9237-22c8d2634c57 CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f11c6c-d1dc-45fb-a59c-04b32586e1b9 CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efb8d035-1bab-44d7-84ae-d40041777aa3 CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e103050c-8b1f-4f3c-917d-b80ae7eae6da CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af22d8e6-fcdb-4d12-9560-32974b5741d6 CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffcaee32-181a-4a44-b70d-44fb3a9e4632 CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccfb493a-5afe-4911-aff3-1709eb4ea273 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88b345d-8bca-4c5c-b49d-2f95475b2381 CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00b05cf0-3026-429c-a37d-ce7825ecfc07 CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1561faa3-e40f-499e-8bef-26c5004c6861 CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b974207b-f76d-4a8a-b966-ec355ff0b4c5 CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e31a941-6e71-407b-821e-1874005964f2 CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c7ba460-b241-4eef-a181-4dfd866ebe53 CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6382e1-4ae1-4e4a-b75c-6c55fc7cc337 CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27f564ce-5940-40ae-88f9-907ddd7fea76 CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e0494d-d1b9-40be-bfd3-6b08f2482650 CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 519b1221-edb0-40d9-9cab-2d529ea9ff4c CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7255ffc7-52c2-4b8c-989d-4a8e1deeae23 CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 693c4240-ebcf-40cf-a6bf-6d850d82f187 CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639b4b66-1757-44fa-b4b4-8c77724937e1 CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b00c7f2-b332-4392-9c7f-f149e69476a6 CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0a2eef-efa4-4729-8e09-38cbae6684e4 CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c44e9418-dc9d-4172-9946-980678cd5cde CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a15508-1e6b-4955-a5c3-2d4a3b615b47 CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abc53fc6-a62f-413a-89c8-5392428daf67 CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb20ab8-27a6-43f8-9b7d-97047c5b2e73 CA367398628 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e02dd330-7354-4929-aba3-cdbebebb51b5 CA367398628 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddc2a09-85ef-4059-8246-16c0337f03ac CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82672fa7-e6a1-4a6e-bd18-9d9a25e84f76 CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884a1a42-4ee5-423c-bbef-bf85295631b9 CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5170219-6c15-4c42-bbca-f2f2e2283a36 CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdef881e-aa7f-4b3b-a983-c606430f5a1f CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47db757e-3f75-4d74-a0f1-a17933dd3d6d CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb4f88e-b84f-4790-8c4d-d9891e8d37ca CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7929f77-5e12-44e8-bed7-a8796cee0fe4 CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b2406c-fd03-4375-a86b-9d6c9b92c4ba CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a4d95fc-49de-4bfd-a670-2108505c11bf CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa64df2-241c-4d44-974a-9f46352513b8 CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7420fdc-c5c9-4688-879e-e0ad15ed437e CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b58b8d4-4704-4532-bf92-ecc9d95a08ea CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15a246d9-86c6-40f4-9464-2b0d9970b625 CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac166dfb-15ab-450e-bb97-2221ce5816c2 CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a04316da-609e-4e5b-b924-9f693d3633b0 CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3be1e9-7142-409f-9d64-fd210009b10c CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6889ab3e-467c-4aed-9883-a06ac061c5a5 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe02b6e-8804-45b6-a59c-37b9d9e2fe91 CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 222095c0-fb5c-457a-aa8f-a4623aaee02e CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c7d078-b2f7-430e-80f6-7bade78c00b5 CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34e0a914-4d7e-42f8-ada6-c6e8306df04e CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56607b69-3c76-43be-b4ad-b242bdd7c5f9 CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b87e2bf0-9c23-4685-b5f8-80cc3c3d6f54 CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e53c6eb-5424-4396-92b2-c2e5ca46290b CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87ac9f96-62da-479c-ae6d-da448d1ba3ab CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14f394a-14d8-40b3-86fe-817e4d386ecc CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a51847e-6e32-4ae1-9203-6e1d2bdaaded CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5583cd7-1d7a-4b9b-8c55-4a9f9f580483 CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27fa20a3-42ab-476d-a0ef-6138d5750113 CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865ffcdf-d9f5-4b2e-801f-398ba89ca0ac CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8394a363-eeb2-4413-b2da-34e071764fce CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e352743-dabd-4870-bd0a-204962dae8e7 CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1eefbbd7-9f0d-4aa1-8f3f-967ca777e0b0 CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd92089-d77b-4230-8b60-4c0745d135c0 CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 475d01e9-b370-49c9-84bb-a88382371227 CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a544f7-f4c6-4484-b92e-67c4a19eadbd CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ef6ac64-5675-4d79-aaac-847b9125a959 CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be1c31f-b80b-4c67-8f66-8c72e3c81d0d CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ca7fc34-8bc8-412e-84e0-e49a5e189355 CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcd08a7-957b-4eb3-8988-58038204f9cd CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d9863f2-ad91-4fd8-b1ee-caeb817355c1 CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3d9da3-1e71-48a5-bc60-ddcb6e989f6b CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57f4f540-b352-4787-83f0-13927c855dc5 CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c100607-9937-4de5-bea9-7faf2295b4e0 CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86a7539f-332d-46b3-b03f-59fd53ceb00f CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260e062c-73eb-4395-8c83-37d5b91baa7d CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5371152a-db5d-426f-aa40-09d59fbaac9c CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a48c90aa-0d04-4e32-9bf5-ab843d48ca72 CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68cb9ec2-fd9f-42e5-bce9-dee8e7905e13 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4f61d4-0d3c-459c-b9ca-0e437a2a597e CA409106102 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df091b42-596f-426a-99ca-79d488d60a7f CA409106102 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d25f3f-ffbf-4c18-9bbc-f089ff36d7e9 CA409106099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7977203-d44f-40a4-adb0-375dc96b2d4f CA409106099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7175ab5a-1ce2-4d2f-9cba-5607abd48414 CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 521129d2-47fc-40ed-bbe6-6655e438d241 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcf4cc7-5c9b-4d40-ade6-ba3fd70e04ae CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c6d6116-4939-44c0-9f18-db824774bb27 CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92601c9-629d-41f6-b96d-f2ce10a7cd2f CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b40cc4b6-886a-42b9-ab7d-09f47aa73b72 CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae2e1d2-c104-4d01-976e-4704db42d370 CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b114c5dd-7adf-4902-9e00-1808a838fb96 CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ddfe056-e699-44d8-aa1d-67870197f711 CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee8086a4-a162-40d0-b1e8-5f954a847b6f CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e68ebe-2a0d-4236-8660-b3b5159145f3 CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eb15e7e-4de7-4592-a3bc-8b8ff281aeba CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8e755a-6d76-4695-9bbf-d133f9bab389 CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 993b2183-5194-4672-8b96-367bd0ff57eb CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2fead2-8c2e-4bdd-9778-03e1f91d3f29 CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e66a3674-1f25-4000-81ff-fec9e4072bd0 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3816fb-c002-4d8c-9ece-1704c034d4d4 CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccaf9159-7ad3-48be-bb05-5f5100319dda CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ce0c84-0e5d-4034-acdb-b3073d798f61 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73cb04ff-a06f-4c3a-8da2-f991119e0830 CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483826bf-5ec0-46d8-a7fd-4bf92ef68887 CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52118a7e-3406-4188-a039-3ea1a0fea262 CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a0cdc7-0ae5-4c86-8e00-cc919bc9c6be CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcba06a4-cbb9-490e-bda0-e5256cc33585 CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba25596-3a83-4bc6-85a9-ec3b773b7e3a CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e407cc1a-f9ef-4b0a-b520-255467ea5ae7 CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ec4a5c-fc09-4346-adf4-f7d0f04583c9 CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7566c614-1beb-44ec-afa5-f44ee32daed9 CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e822c9-94ed-40ae-9310-4a2e96ec970b CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af06109d-e167-4da4-9429-d6104b059aab CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e24f06-a0df-4a9b-867d-b01085dd87d1 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a32e5505-ebcf-4032-9e7e-0f211a94a9d3 CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca28a43c-5a17-4384-8672-a706ffdf5f52 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1ebc933-5705-496b-ab08-3f77d65c0455 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80977912-1853-4cb0-b5b2-4c0ca1f6b1d9 CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a19f7ef4-c7dd-4451-9ef7-45473ddb8021 CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5ade03-e840-48ce-89b3-9ba432b646da CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb2933cd-dc65-4e53-8bd6-45bc723a2934 CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdaed47b-1ead-41c9-9827-a91698950f6e CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7f6d981-4073-4bca-a132-56bfaece1cbe CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9ba11c-dd04-448a-abbd-addee3756798 CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9668c7fc-88e6-4c44-96d5-9171a4a3357b CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359a761b-fb1d-443e-b328-f6112008ffdd CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc6b20c8-1ebf-4b84-ab80-f9804d688b87 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc049f5-99e4-451f-8e09-1e53b91d4dbb CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b148c8b9-8540-44c2-a878-8e6fc0e94442 CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d680b6-02b0-471a-b14b-1408f6227a00 CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6596ee47-3748-4462-9922-ac5e1d2305b2 CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dee31dd-69e0-4e7c-a4b6-c0b05938c34e CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5da44be7-9eed-4b82-9b99-b6faeecc77ef CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23e7eae-6df0-4e8c-b6cb-95b70b5a48fa CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23ab3bbb-84d8-4a63-87f9-9e72457b3f58 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0dd6c0c-30e8-4205-8eae-54bc80fee54d CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc8323e5-0e3a-4607-95c4-090cc7060e5c CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154db6f0-5ce2-4e63-999f-58cfd4efe8b2 CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70a9600a-e727-469b-a5bc-dcabdd5cedc3 CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5beb6c19-3fb1-40d6-9578-bfa822df09f2 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a21c410-25b3-4f00-9204-99e3004b8660 CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d6c0fa-7d08-42f0-91ed-d3199b905ed4 CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6f8279b-16a6-4c48-b024-f9eeb9a20bc4 CLINVAR:417476 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ad4310-b46f-4f02-8ca6-2fe50e7cd7c8 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36d55316-5540-457f-a26b-402e860dfa30 CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f975a9-d871-48bb-91f2-b012908d1349 CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94f8e32f-cbdf-4bb9-b94a-6423e152b26b CLINVAR:832666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0af9459-dd5b-4bcb-9a79-2cad2c0f16c7 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8f301c5-d85a-4111-8920-b59a7125ac5d CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf62e1c-e221-4c82-9834-6e05e63f1e59 CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4eb8ceb-86c2-4026-bf8b-9f9f7b80e7a0 CLINVAR:833071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e79880b-5928-4618-b2ec-a4debe776d27 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f20e468d-6f8f-45c5-81a0-aeda3ef2f868 CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8824f8-e8c6-451b-aff6-2cc54f60d5e8 CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b58c9d9-1a73-4f54-97b1-8e71d02699f7 CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e78c8a-d120-45f1-b506-e660e33dcf45 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 049578ba-2d00-458f-8134-6ee43a16f36c CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07712543-e289-4cf5-8a70-643cbf146ede CLINVAR:1518631 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 338df7f6-d098-46e5-9c9f-da25e314f345 CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fec8397-d419-4d55-b426-7c5ce6231a31 CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2785f6f-39c6-467b-815e-e78025b1677a CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d85f2d6-ded9-47c0-9dda-f1c264428b48 CLINVAR:561250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c2c4ef3-d35b-4995-bf2a-dc80b0c5f4f7 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe3eec0-7756-42b0-8dc7-1d5362f4a9ca CA410207975 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82eded39-48ff-40ab-bcee-41d7346021a5 CA410207975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe51d8df-6816-42a0-be29-a78a6763ee8a CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75f993d6-8568-43db-ae00-129b601af66d CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a09297-c09c-474e-96e2-ff70144892bc CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1183c9d4-0986-4a3c-93a3-b1c3f8f9e673 CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927da051-71f6-492f-8418-9eb3e83862fd CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f52018ed-4cd5-4aa7-ac2d-41c574cd906f CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc2e45e-9141-40aa-9390-5007eac3c170 CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 952eb5f6-9f47-40af-88f2-28be24911bf0 CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b177345-b53d-493d-98fa-b556001bd4c5 CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54788fdb-2db4-4456-b2ae-8fbc8faa6dfb CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b056e6-5528-4a8e-a9ba-bc5063e50011 CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b47e9f40-44bb-414a-9bcd-a7e34e58a8e6 CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1df1f1a9-0fac-4d1e-ad73-a5ef186de56d CLINVAR:561234 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2dc115a-3d20-430c-a167-1715c66eec30 CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e949184a-7c72-4f9a-98cc-60f386f42f3e CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f36dadaa-f6c2-49d2-a297-b5162abbff52 CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b8c077-1ded-4410-bce5-af6a5ec61ead CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07ed4c24-3d7a-4b68-9ac3-9549a710ab91 CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 293186a1-a060-4cad-8df0-846ef39cfb66 CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a0a6694-6c1e-4b45-aca3-1375e094b3fb CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 099839da-c25f-4b2d-a2d7-74d1c6e2c1e9 CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2789001e-9b30-49b7-acc4-c470b882e5f5 CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213f1d2c-bbe2-40a3-b1d0-6bef5cd4bb8c CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd01a57c-1d61-4ec4-b8d5-a660f4205390 CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5662a152-8e77-46ac-b73a-6db948e926f8 CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 491e90bc-43c8-4098-bbef-bd0082664620 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c726ae-7011-4a35-b27d-1759e3d462fc CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2df73bf8-cde2-4025-aa4e-b246ea346c71 CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0f0d8e-1d7d-43a8-9dc4-43a861cded00 CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c45f2805-d6ff-4837-bcc7-0dea9ae3fc21 CLINVAR:812913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1267c4fc-0e64-4ee7-bf2d-a8063dad240d CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e95fff9-f530-4d57-bb5f-391adf99859c CLINVAR:1067688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 822c95da-2b24-42aa-a106-6ddf1fff51c4 CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad92420c-c2d5-435c-85f8-4be7b53271a5 CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c93674f-bdbe-4d83-849d-b583ac093dd0 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6ba2604-b354-4264-8cf5-5daeb2562d4a CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df454326-8906-40c6-9036-422465459a9c CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 267b4400-d874-49b8-9470-c5d885676086 CLINVAR:1013200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3660f1d8-1f68-48f0-8c8c-fd72e87dc3bf CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25ef5672-abc1-434f-a532-ca6b78c1c541 CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb20b2d-f174-41e6-a30a-812889821fee CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15e70559-0ceb-49f4-8532-a540736b7e1a CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f37234-58fa-4728-a8cb-0e3d4e113976 CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0d57ecc-5411-4803-b2d9-4f5d6a14d0b6 CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffca8c43-560f-4bc2-a136-b5d54cb7ddd6 CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cf3805f-beff-4122-808a-99d14e418172 CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26442b4a-23e3-4a0a-9ba8-60e07412689b CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 556f616c-ef2f-4a5e-9150-5104809c83c9 CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d57238ea-2a03-42b4-95e2-24873f604cbb CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41e791eb-3173-4145-9a7c-70d277692152 CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3abf086a-fc1a-4b8b-80ea-be7eca1b0350 CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0aa52df-ccf3-4242-bdb3-0da9b08dc800 CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 569bb724-0e93-41e3-b31b-9e3ed35f3732 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ddc9c99-5fdf-4238-85b1-5d4ebbe845e9 CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2325bc-48f5-453d-aaf1-e372a0de9bb6 CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edf8711a-91fc-440d-aeb8-18d4786ad303 CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811a8724-a624-4216-990d-47a5be553af9 CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10f41eea-2992-4e29-b92f-febc8e1aea07 CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff7e6c2-683b-4a33-8b19-588f887c7633 CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2e8daab-8b34-4b7c-8203-42afc123ac1d CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325592a1-cb78-4251-bdd1-f13d2713f294 CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 784b79a7-975a-4d9c-9eac-7fbfab01cc00 CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8624307c-d3b0-4221-82eb-451ded1eb7b0 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67f143d3-f3c0-4219-8baa-7a89ea51acbe CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f569a43-eec9-44ac-a075-4275864492b1 CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f406b799-3e69-4c5b-8916-4d08214a2f36 CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6d2a13-7013-4b76-80ac-d53e7cb3ff39 CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06733e64-04bb-4f5c-aeaf-9813e56a229c CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b343b1-e0a0-4c01-9666-8c75561e206a CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b8afe95-f4ff-44f2-9bd6-2ab61e7c6d09 CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df35780b-24ca-47c3-b881-2c5df7862fc8 CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd902ece-e311-4007-995d-4f270a21f3aa CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22855f4b-e443-4431-bc18-1bc4532d8c95 CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2d9bfd7-caa1-484a-a002-12534602b984 CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee723674-4115-464b-aa2a-cd4023633e07 CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bddcdb71-3ec1-429f-826f-d9702c8d5e10 CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f02cc05-1e11-42dd-86ea-3fcf47523133 CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64314bee-21ca-4bb1-942c-a22eb4a8cb87 CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf78fbe-f2b2-4500-8486-c72a50c0ff35 CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1169da3e-bac4-4af4-b3b0-15767bac2100 CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a365ab5-bc96-47d2-b271-0961ee96de42 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba2d50f8-f215-4037-b48a-9812c9d98ad9 CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c70060-7d9a-4dd0-a5aa-f4c727eba8f4 CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4752694c-293b-49c5-b280-517a1ad11926 CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab075db2-3bce-4135-886e-14fbe01007f9 CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ceebf0ef-a8d4-4792-9d52-db733f6db6be CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a4eee9-988e-4094-84f4-be16d8eddb50 CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 379c1330-fd08-4cca-ae0c-898b0285d216 CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518cf09d-9f2c-4a09-8b4d-8504c864c358 CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb1dc8db-468c-4e32-b489-6d2b638b6558 CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8f6f85-3c4c-4270-86a2-7c98a9c933c8 CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0c36d27-8f22-460b-8ea3-5e7df8e2e788 CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba831c31-5efe-49c2-a937-53301ac00379 CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f996e76-8b91-4ebe-ae22-1f57586779d3 CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d732a6ef-7132-4123-9d9c-8e84693b5bcb CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02d8ea6c-dfbd-4750-b0c7-472ea91cd370 CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c53d836-c198-4600-a531-b71191ee56c1 CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90578039-b1b1-42b4-8cd4-631d7ae76390 CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c6145a-ccf5-4748-aba8-59dd3c11fca0 CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a60ea52-61fb-48db-bc25-c7509208b536 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf135f8-324c-4f9c-af64-cc8a6c077936 CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ea71f5c-2d08-4c06-9b70-677e021c7af4 CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad1af79-07b9-4df5-a6b4-2a88dc85fbde CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d0d1745-ce8d-4f6e-b910-faa1f522f102 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ccb089-c7b8-4e71-af61-af27ed40c69c CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bc305a2-dbc9-4c4f-9281-4b5bd9985085 CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590203ba-2b5f-4a2b-b84b-f6a61ac402a9 CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2756713-e703-4f83-bbd9-f391e112146d CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c401f0-72df-48df-a4c6-f351e7724d58 CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8cfeeab-f194-4562-a1bb-3dcb5afbc9d8 CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93398b0e-a07b-468a-9577-86273a49c57a CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa5314d4-ea09-4404-8f47-69b167280074 CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d38b67d4-6020-4751-bb48-2526f044b86c CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68ef3dca-e9b4-4efe-8be9-fee139399208 CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12918117-6fdd-4316-a26b-3132405ccf21 CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9144795-33d4-4b21-8552-fd8f5966f619 CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52c335f-3995-4b71-82ee-216c9f30eefe CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df9cb00e-9921-4ce6-a28b-07d6bf138ad5 CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65fb4b7-a589-4a31-8c52-49b3751f081f CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00e30aa2-4429-4d70-928e-dc7f01cf9086 CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa10bc9-3f50-4ce0-8e99-f5dd5f3119e7 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 847405e4-9d1c-4b84-b90f-db640c06411e CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65e1588-c8fa-40b8-a182-968b4b9e74b5 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a0f71e9-9e8e-4567-80a6-e5498c1a34d0 CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95ed370-139b-4a85-bb57-500fe858c8e6 CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77efd283-1b23-42c5-adf9-551081bcda80 CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cc616d-f666-4ea3-8b9f-82a9632bf2d0 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 646239bf-cb70-4e8c-9e21-1c390961d716 CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b49efbf-42fc-427a-aa8f-376f999f5ac5 CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4862f9d-f6f1-49fc-90d5-97a8455c9034 CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1dc0793-f367-4414-8eb1-3a72277ca11b CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f19fc6ec-b0f5-4d7e-86cd-cf2870eec2a5 CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6e8515-8ed6-4c11-b9ed-ebd9a3df280f CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfd7efe2-fb8a-46d2-9430-0cbe3c28c86b CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64612117-34f5-48c3-a7da-52073b1c0354 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49b1bb44-5bde-4b59-a7fd-d846e518a0de CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e5c393-40d9-49d8-834a-90de554f3217 CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3377c10d-572d-4898-aa7c-7c2f53ca6833 CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10423b7-3c4e-498d-a419-0f188fdf4436 CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 119eb93e-fd2e-4a40-9813-823ac91490a8 CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8554b78e-9cb1-4269-8c83-67c1038f0dd0 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d15e56e7-b9d7-4913-bbb3-76eb23dd6d08 CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272a186b-9ab5-4fad-8cfb-c3f751237288 CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b290f14f-8031-4450-870f-82ee131fd289 CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f86eb60-0bcb-499a-8d2c-4e9eaa1ccc7d CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ab75d12-3c37-4adf-8219-d7dfb8cce4ec CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cd1812-d880-41f4-be16-3bec5886268f CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0f4a272-51b5-4abf-a649-3b8189c54cd8 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad71ed4-2e86-451d-bd8c-05c75f947462 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 158408b1-627b-4d0d-9b24-9d58342a55d2 CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a627c9-564e-4ebc-9361-0060e68aae3e CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1c6bc1c-a428-4489-af95-7ecea08bc0d4 CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0687dcee-5ca4-43e6-b105-1aa1b2fe18f6 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92166a66-5b32-45aa-b36e-bc1945cc8353 CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679ee9e5-e276-40f8-b917-0104d53cad14 CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1320962d-6696-4745-9202-9e7ab18b7447 CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc3d888-38af-453c-9d1e-985a6265d302 CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2e5f610-096d-467d-a865-4038677eda2e CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1269012-bf3d-4193-aad0-46b7bb771996 CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07aba136-ac45-4831-ac68-002d37bb5419 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f60c30-7979-46e2-abaa-3ecdbdd791df CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ef35a2b2-6dbd-427b-9b3c-0289f19e50e0 CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3213bb3e-fdda-41ca-a829-8c4223ab7e7b CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a208e861-e815-4910-bd5e-af5d613a20e2 CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ab03e4-e2f2-4754-9e2c-3ca35e7060d0 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df9290bd-5984-4f60-89ec-122b7e918746 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d55e8c7-926d-4779-b5d6-3cdcb5689283 CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 569f2e82-bcc1-4930-8834-e07376229264 CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469abc85-fd0f-4bc1-a403-3c12ecdd288e CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd6ded86-a811-4fb0-a5ec-531d81bfc9cb CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8f338c-1d4e-4c8a-a4df-7a273b578cb6 CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94487f2e-1fac-43da-aa90-b4cd75acf534 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388914ef-6a68-4de4-b7d3-0d79bfdb197e CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d26a7f84-ee65-45e6-aa42-e6071566ed2c CLINVAR:549451 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579f89ac-b2ff-48e0-9572-e29de6b3c300 CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 644a42f6-90d4-4967-b357-dafbe883207c CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cce6754-1b5f-40a8-8ddc-1e1aa6c82c13 CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29eb2df9-b76d-40b6-832d-61efc9fb178f CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d094fa-555e-4183-97e2-275575044a8a CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61e83c89-3dd1-494e-915b-2ce841941b0f CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae269f1-7271-466e-9bc7-69710039107d CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9baed0c4-ae7d-4bb4-82d3-62009d05b438 CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b31ac04-f67f-4289-b2c8-011f576dd16b CLINVAR:2138184 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d24e100b-c247-4013-9596-21dfae5138c7 CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255681e6-5117-42a6-a0a1-14176c9c3f44 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0979c089-d793-4638-a249-88ed16430b6e CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c7ce43-02f3-4b0f-b8a0-ce4f4e6c3479 CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a2bf4ce-3893-4e2f-8c8c-337be648f32e CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929f5fc2-6c22-4eb9-a3b0-1bae0574c180 CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2148494-21f5-4b45-9652-2f9d875e98be CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536d2124-17de-460d-be45-ca08180683b8 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18e38253-30a0-456d-9d39-1edc3cf76fa6 CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0104c9f8-95c7-43f2-8dc5-1ff53fb38dc2 CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8cc62149-33a6-4751-a439-c1775d155f91 CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e2fb36-c9d3-420b-9b76-e3ae24e2737f CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aff52f91-0ba9-4e3e-9f5e-84b868e27bf3 CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9583028d-242f-4a54-8744-767263336547 CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1916156-44b4-48c6-b2c8-275618b6e597 CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 992142ad-586b-45a0-9e8d-39803c952fb5 CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c756c7ac-c6dd-442b-84cc-9351080bb08a CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8bb575-8490-4c2d-afd9-a6030c909b72 CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23756f61-32a0-4ad6-a3b4-f004ae2713ed CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a9ee690-858d-4818-87f3-1c5d6309b1e0 CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d948b315-1212-4ef5-98ca-eaa183cad5ff CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3ec65c-c8ed-4573-a626-37020240b7db CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60defcee-aaf3-4da1-a23b-4b0d1ce4bc89 CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cda8fa-afbf-4bdd-91ec-df411e2607fb CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e583954-b791-4d96-8f9b-774fc9b8f6de CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c12235-5876-4905-b480-da78d9a5e337 CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ef6d835-ae11-4c7b-bdd2-2af549eeda67 CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81cb6906-c7df-4b90-87a4-a40f61cf0685 CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1157039a-e564-4bb1-9797-843360899f01 CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1840086b-388b-48c4-8d49-46f831886d69 CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2314deff-4011-43ff-8ca8-f6f3bc5efade CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26789c9-e3bc-4f43-946c-07f48cb30e68 CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce84e1db-0807-4221-a259-1b0fe60038ea CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7521ddd2-10a3-4a79-a651-c7f57d3d1b35 CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 840695b7-2120-4da8-a6bc-4235a6ccf9fc CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c88563e-4325-4379-b16a-f2c77ec8f796 CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f10320e-7470-4d67-9771-499cbe05b277 CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b17bb5-38a8-445b-a701-69b141f957b4 CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d0c32be-bec4-4d9e-9b60-31769777c113 CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7492a6a-c4af-405e-9fc3-fdd10b4c941d CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48eddffa-1569-47f4-9085-8bf9d78f0d22 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b964b1e0-266e-41d5-86f0-d792df7449f3 CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf6d202f-a310-45d6-aca1-ea2d26437502 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6625257-b051-4399-82e1-8a33bbf6f20a CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02789b8f-471e-4270-9ff5-c9232c232eca CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d67143-f084-4501-9904-067641ed015b CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3220b375-7f0c-490f-9d1e-7c8b19539bf2 CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d20fd93-2407-44e1-84aa-2e56b3ed0af9 CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24cae64d-c066-4de9-852f-d70bd500bb51 CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54596158-61a4-41fe-be47-e40b1abb259f CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13153e61-589b-459a-b812-e3a8e9d5176e CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e991fe52-9ca4-468e-86a8-a6c4e147282a CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f228ead4-21ef-45ef-8124-c72f544bfaec CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3120f21b-7418-4a46-bb47-9fbb4b5361fc CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 065ff110-1b07-4c5b-bdb5-8657372426ea CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3615045d-5612-4faa-b1f7-5cf54c6c89f7 CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91acd1ec-1bd2-4214-ad1c-46bd97ace8ed CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28088c23-dc83-4234-841c-0e9f7237ebe8 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f69818e3-2355-4593-87fb-41e88939fcf0 CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390ac7d7-e1f4-46cf-959c-310dadf0e2c8 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de071f4b-1527-4153-8fd1-00acdd2eb303 CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b083dc-d7fb-4ec9-a7b6-35e3198a5874 CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8943bc3-014c-4ac9-a439-b566f2ffcbde CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba4e8fe0-d931-419c-871c-5b44c4242c83 CA402996857 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e39491c6-24bc-4415-a850-7ffde2981bc8 CA402996857 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62d58c7-0397-4fbc-bb7c-c88a6a1c963c CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91048afc-6954-4a26-b728-ac4397bad010 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f7b96e-c45d-4963-a8ac-3bba1e7ddfc8 CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d5aca2c-a1da-4877-ad0c-553c73bab0a6 CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8acbb6c0-74b5-43e0-9a7b-378ded770d3f CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cab3a21d-40db-41c5-b91f-f9153faac4c0 CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a0a73f-9973-46bf-9df8-c201e1bca2bf CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e2ae17f-485f-4797-a66c-d243e89be642 CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7925cfe-ba24-4991-85ec-2f3330b90741 CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b59ef628-394a-40ca-988b-924d71a1067c CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305b51d9-0350-4892-ab69-a0c7df01586f CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9aaccc47-0f49-4786-b830-a719c7721284 CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17a471b9-0b5f-4835-ba43-63e78c06e9d5 CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4d88853-e0f4-4066-8c81-a30c3f68d481 CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79cdceb-ab14-4a4d-8955-f261744d01c0 CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fab274bf-0804-413f-a842-f5f54ebc52e9 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad852bd9-f2a9-4df5-aaf1-f6ff9504e550 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1839a3b5-e798-44a3-9816-efdc69712edb CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c93f1cf-6e13-4424-bc59-9e1776011c7c CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2ffca03-b346-49b2-bec3-872a07c090de CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc41eef6-c072-45bb-9164-14f38b59d774 CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1401c0a6-1ad5-49e0-8c7f-c5de9fe1d8bc CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d3d71c-946e-4ae1-ab33-a91a2d46a62a CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6848000-dea6-4123-8039-9ee82906cfb9 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50d7b55-fb10-48d2-8cb3-b505688cfdef CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3d13735-9954-44ad-b48d-6f167d20f176 CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ffb9b0-b250-4343-9d4d-e2a1cb6e59fb CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16e34934-bc56-4be1-8b36-084d4a7cd5d0 CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa48562-dab1-474f-83a6-c0fe4a7ab862 CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80bd53ef-e183-43f7-ad03-49a106c20313 CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8b21e4-d912-43d6-b243-76b543507458 CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06c92fe8-f5a7-4036-b3a5-c0f9dc73cbda CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4c55e4-c95b-45cb-9d0f-c53ab500ee72 CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdc02024-5847-40b9-9d7d-ff808b332e5d CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1aef140-f2cf-4527-a2d6-87c7f380c84e CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4e0f82f-d259-4cd8-9b25-1269c307ed25 CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aad56bd-cf96-4766-8303-a35ea23049a7 CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae6bb003-9048-4ef6-8ed8-b984d9b49983 CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf459d6-6947-4682-9516-f143c816fa63 CA402991093 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6952093c-95ee-40d6-9741-8be1682537f4 CA402991093 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f3561b2-b055-4941-bcb3-3a26c97353ae CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86c2ad24-ecee-498c-b0d1-12e2f42497db CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5258673c-e790-468b-aac0-fc514c2d6f46 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d82e1e4-41ae-4fe7-ac03-24698ab3e53f CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2436db1a-aaf6-4206-bc57-0123db60cec8 CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4aee855f-26c7-42fc-beb1-c17bc2242cf9 CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8bdc33-f471-4ca0-8794-09d288fbc7ff CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 288a2f68-9917-4b0c-99c5-f8573b573b1c CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19fa757b-8105-4d12-8538-adde6a2bcf1e CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bacc403-999c-4c16-afec-c5121f23c17d CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c1b718-5b28-4e56-b371-36fad2f7d9d1 CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 427c940f-e66a-4135-aedf-30574513ffbd CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5425f976-2b38-4fe5-b2e9-940b3802054a CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e92a0601-02dc-4221-a3eb-2f60c7b501cd CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be1e4d4-7592-471d-9dd8-c67d71fc2419 CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a6688a7-801e-4347-b2e2-fd5515dcc6d7 CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed525ac0-dc83-4671-8fda-ca2a03fcce7a CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 640b55c0-a2fb-44c3-b3cb-9bae066e8315 CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd55930c-652e-4728-a587-7bc5712abca5 CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 764539e3-c3a8-43ec-b922-2ac05278a33b CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf333b7c-8c8f-46f8-83a4-35d39465e67f CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e7739bd-25fc-491f-9718-35412231ce67 CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b7476dc-79f7-424f-a33d-62139b4b719a CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8e994a1-4fff-4751-8b8a-315df6bbe2aa CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd6515c-7e15-4d05-8c32-25c149f2c03c CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f368b5b1-fcda-4f01-a0d3-a88200f859af CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b080b411-170a-44b5-b49c-c027be6bc29c CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e28c6f42-b464-4677-afc4-b9ea9ab5b175 CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88fff762-8a31-4796-8190-06cfec135327 CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee04441d-dfb2-4353-8923-cb8c3a5d1585 CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f84a98f-0709-46f1-a747-a8cadd89dedd CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b936e677-7922-4f35-92ef-24853d85f03c CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af23d132-689b-4cc2-ad8e-f008e55dbcc4 CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e791468e-1b5f-48cb-ac7d-57892220379e CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d051ea57-59ef-41b3-ad5a-ebbf2150d47f CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f5b32d0-9b3b-4056-891e-3c8c0d6b620a CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86068d8d-55e6-4b1c-873a-2ef6ca82f940 CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb7d69a1-618a-410b-91a4-23bc33184920 CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2528c1c3-e08e-47d2-90f1-f083a780298a CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a100a59f-d338-45ee-ac57-93ad11c74bdc CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116369e5-67a8-466d-bfe1-afbecbc77f5a CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0bf071e-5a2f-442b-a5d8-a6b5ef92d03a CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5055b50-7acb-4459-b0e6-7b6c319738f4 CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2001b5bf-e58c-4801-8980-e9b4fa377bff CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cbe2830-e6b9-4d01-a40d-e319765c550c CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df78d7c1-17bf-49a5-9b57-1773d10715ac CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a08d96f-82cc-4486-a41d-a632d6760a9e CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78da79a5-305c-4640-9f84-743860472088 CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c136e925-b3d4-451f-9930-338012866118 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f17208f4-1288-40fb-a94f-c03afb49d3f6 CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346958a1-3fae-475d-baf3-9aeca1ad469c CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78bfc5c0-cd14-476b-be68-3995eb4cd33e CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f05e8a-3892-4f2b-97e3-fe4dd1991933 CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5bc32ca-0737-41b2-ba66-b9f2bff03183 CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc75d41-c8d6-4615-a224-582a25bc3a52 CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecb95b8d-4ec5-450f-b73a-59d144148a16 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432360a1-f161-4585-84c0-48cfbe703446 CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aae3d0ba-b5e8-45db-86fa-c7a8756b53b9 CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9974707a-62bf-4b70-90f0-734307432c59 CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8794159c-487d-46ea-b731-ac6d15adc0fe CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16715840-d903-4d52-b268-5817e785787d CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84f43574-0089-44bf-be63-1cce8618db47 CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5584ca40-313b-448f-8499-207f14dc497e CA402998134 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3acad94f-9fa3-4391-b21d-faf77bf9af70 CA402998134 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c64794-836a-498d-8e24-078b0c1cbf5f CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e01eff9-bb43-419b-878e-a822d85fdcc1 CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154e3e5d-fed7-4e15-b80d-089b4713a60f CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ba9202e-2fe4-43d1-ad24-3d2adea38dd9 CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a3f0c8c-760d-4d67-8427-4c4fb369c9bb CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71e29d19-5172-4716-b186-bd9e473323dd CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a458e6-e22d-42d5-8a4f-d79dee9a828d CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ed65e7c-47a9-4417-9c65-790d534d00e1 CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788a663e-e3ea-46f4-a325-bb321dca960d CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0aa6aafe-fedf-465a-a62a-442670c85ce6 CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 578971de-0d14-4090-a821-3beca53e4996 CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6dc3c72a-8c44-4d4c-bebd-50ca55ec3f1b CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 271b06bc-06ba-4491-98b2-02b7d3cfc7e0 CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0416f23f-0d85-44b0-9978-554000434644 CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaec2ba6-cf38-4079-8b2e-ed8ae7b70e87 CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dd98730-6f72-4472-a445-88b08c843cdd CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343545dc-3be9-4063-a955-60baed4d60da CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a71b249-65d6-4c92-a429-0a91562f9416 CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 712ed82a-66b5-445e-9d68-029f387a1045 CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 913af026-6459-4990-b2f3-9aa65b7ac8e6 CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba856c9a-0cc5-4c47-8639-a0ce0857e021 CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 191f0fc0-31de-4f32-ac3e-19d54430b420 CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64115f0-9b0a-4b81-a549-df9c1e3d86dd CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab456c11-d039-4400-803d-ce9c1e0a491d CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb5e814-d245-4106-b28a-e0cead074fbb CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b7e96ff-67b9-4e53-aee9-2ebd7bc32836 CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f10d76d-50d7-4ad4-aa87-14f1edf26841 CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c924949d-8e2e-4003-8e25-fc31f380a582 CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91b4be3-eee4-4ee8-b5e6-ebe474a72e16 CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4482427f-c2c0-4f6d-b172-e329fffa5f39 CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227e89ea-dc7e-42fb-ace0-2fa85421f3b5 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e3f00ac-d088-4372-ac65-7727295e21e3 CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c5ab23-c966-44ac-b4d6-e5db6cf2685d CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc38061a-915e-4971-9aeb-0d61e506c2b5 CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1406023-8b74-439e-8acd-d70b5934ac6b CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07021921-335e-49a5-bc9d-ae3ee675e5e4 CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7f50fc-cf63-47f0-b5c3-ff0d1e6a45eb CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a03d5b3-5902-4503-b280-5c600deeea04 CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa93d50-9eda-4769-b57b-ed8e8cb05a6d CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78959a92-34c8-4dd7-9326-5e7cd7c73f4f CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b6fa53-bb61-402a-b969-b74a5edcab49 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da3fed91-50c3-4226-aacb-a2506e55e158 CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60e14c5-8745-42f6-884d-8e3181f0eb78 CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98c43e4a-e846-4173-b2c5-c41909e6f173 CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7b4d9e-3438-4350-8fba-8d8ff6bac6de CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46867940-ee0d-4909-b4f8-8c4f7cff32be CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0e0bab-a82a-49b9-93e9-d46e0d3a323d CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd9206e1-0571-44fd-9cd9-8f189e8bcbfb CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e392da-cfe2-4be6-ac02-e920ecd2241d CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80b08be8-7f3d-4724-b5ba-20a5d0b71313 CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e43ac5f7-da2e-46e8-93d2-72e6899b5a24 CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c44d8575-68f3-4951-b635-e2105e98c9f5 CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e965342-ffea-451b-85c6-656b1880ad23 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68cd1d1b-3912-40b0-af41-5df4be163d50 CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0776c3-d950-44a8-97af-d94bef83d407 CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02305595-1413-49e5-b173-45babc2e27ca CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b375b30-653b-4211-9a30-a5b818f0e5a0 CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bced8b17-a862-4910-b39c-d21b69a6dc05 CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5026538a-b65d-4cfc-b214-50b9809f4f14 CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc65a335-7121-46be-8077-bd7b5fb7f404 CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2893aecf-657c-4229-9652-8cdce4165b19 CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec3bad0e-164b-46e8-86a6-7babc9ec53cb CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9413e5-613c-4733-8251-b1ef97e25ed4 CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2749487d-9c7a-43f7-b3ed-4c91ab4f0020 CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e63683fe-82a5-4c82-930c-ae689b546046 CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37f031f1-1b62-46bd-bf0a-4efe4ac972f1 CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c37c82-6696-4a5b-a2d7-a030635b4ce0 CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2410ca48-49bc-4820-b984-280939afffa9 CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558fee2d-b1c2-4d54-b491-da589f549c15 CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9a706b0-c52b-4bdf-9d0e-f1b61c2bd5b1 CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c543c4c-b5e2-4b6b-b50c-001eb12f5fbd CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 584823f4-674d-43f8-8423-ed9eca3b0490 CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8336442a-1f75-49f2-9b99-7689fbd75e12 CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5158853d-0db0-4b8b-8862-75bdae367909 CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0fe22e-fa2e-4c71-8ebf-76987e98d5dd CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a6f3569-42ec-4a10-ba03-1b9f5998244d CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f537db0d-79d7-4878-a51c-96a5b6afb54f CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd7e071e-89dc-4588-b0df-e6ac70135dfe CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d0698d-15d4-4cc7-b9e3-723bcdad2016 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f7e2770-3dd8-4a74-9b6a-d06e97b10024 CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa65bc4-9627-45ee-ac32-79a48c1a9661 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2b146bf-a8b9-43cb-aea2-dabc0513a10f CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14a80f4-3018-4427-afa6-ad87fdac9d2a CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f244b4c-e5aa-42de-836a-d9882fdc1920 CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24646399-31b7-4c99-bd63-72261f397143 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e62666c9-d647-41ab-aab8-17c92fd1d5cb CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dbc0db4-4d29-4251-83fd-f58c6ee75c1c CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bbb335d-4c32-41ad-ad3c-c55a3d6fcd1b CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87317ca7-d07e-466d-8cb6-f700c62546d0 CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 154e8273-8a49-4f2f-bbde-2c1887dbec97 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca3b36d-748d-43a2-acc5-fb84c93492b9 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da2bec0c-c254-466b-bd8e-268dc9cc74c7 CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d342346-b769-40eb-9019-c15d09bee5de CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 694b0020-5970-4612-9020-74f20eefb8ee CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3115387e-0d6a-4398-8e40-32ca9aeeebe9 CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4da003b-d33e-4933-adc6-4986c8416504 CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a54c66c-883a-4bcb-9aa2-45c224e6fc10 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe674e2f-0a59-406a-b19d-3e5c0ffa472d CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac96d50-7c16-433d-8f85-d33683883d68 CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba50887e-6669-455e-8a81-7b4b05c80988 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa33d186-7c76-4b4d-8ea9-d72503a86811 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01a0b5aa-99c8-49e2-90b4-8c731bf76d47 CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98210e9-0ec8-433b-ab25-d3e8b329237b CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef68f164-2a35-4067-ab8d-6176cbb88d72 CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7059e296-a51e-4fea-85a5-d52650e258ce CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 330d14f6-d3c8-479f-b615-0fb37e1f546f CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a08ad15-c2f4-4f4a-8f95-4e3970ef6420 CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54c8efcd-8f4e-40a0-9b62-cd40cab763b7 CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e568423-eec2-4a39-a4aa-de0997c66685 CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27e73670-2052-4066-9dc3-a3d6b3c29f7b CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb244731-e1e7-4f0f-bc11-d2b26c6f509e CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c185e6cd-4575-43c8-9a53-c138b324da74 CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44d55e0-bf7f-440a-a7f2-7552b68494ea CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b6040ba-e283-46fd-96d7-e4ac7ec6d611 CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef01597c-ba2a-4d67-8775-66552282eb20 CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e28499eb-6848-4500-b794-fc6e62dd55fe CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e782bd-6318-421d-8084-ea429723ecdd CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4cb2d16-4dec-41ff-b376-e125d20bf618 CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9bc87b-6d7c-4dcf-a5dc-db57a4befa99 CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32384912-1d78-45cd-90f3-abfd0f805646 CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922ff292-8ff3-4a31-bf3d-16aee6d5fa12 CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 122570ae-4346-47b2-84d0-be828bf72ce1 CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96324ead-bdb5-4984-a009-c6351a2d244e CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f1362e8-7eb4-4135-913b-c9df888c66c6 CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea38ed4-2d2e-4fce-bbc6-70af8412f539 CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd1e8753-7608-4df6-8072-e9600d26bda7 CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c72ad2-d9d3-4611-b9b1-a60a40a17d08 CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cc7afc7-b082-48ae-95e9-3f04803f09c2 CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88527a0-c517-4d7a-98fe-f94d10746288 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0b06bc4-439d-460e-8438-770ba3999931 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2398f20-ec11-46cd-a385-bdae055f69ac CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61bd1483-e30a-4523-9eb9-4c5aca3739ca CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2054bfed-dd5b-4031-a0a2-2c1d8c701238 CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04c7cba6-9f1d-4fb8-9ee0-a968606c7f79 CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e47e7b-9f36-467b-8a38-f83b8f0d47bb CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a7b57d2-a3cd-4ab3-9dfb-5ec04eedf15a CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b335fa6-bf29-46e5-9c95-c1aea6ac8623 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff0f70b3-0742-4b90-bacf-9e2d1f1ca767 CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 944896a5-dbad-4d22-84b6-ab4f73918d90 CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 498d02e3-5e9d-4acc-bb69-5bbc7a4dd639 CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060641ac-0d14-4665-ab1f-bcd7fc9a4e15 CLINVAR:690455 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e7a9a46-4f67-492b-89b1-009e5837f255 CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6fef8bb-6d8b-4a05-aa60-5105c1d315bd CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13b12702-d4a2-497c-a2fa-94cd54c8ae07 CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bfaff1a-09cf-4fb5-9182-beeeb64b53df CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cde5f864-d57e-467a-a048-a6510b641683 CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88aa1fe1-e77b-45d6-b686-9dbf360c086a CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a17588f3-07b1-4522-82c2-1d726bb76000 CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea8ef84-dfa2-4870-8a29-8bfba57a948d CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c419685e-3d17-4636-b713-ed369b0d8e23 CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb97656-fe29-4c28-85f5-ccf4f81beeb5 CLINVAR:577152 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c6c5759-212f-4903-8bf4-509d2151b588 CLINVAR:577152 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0365583f-a8ff-4ba5-8553-91b126caf9be CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be488601-3fee-42bb-90c7-703fe802373e CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb65b06c-6b45-4926-b785-1768c2ed5e93 CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5d1228f-e33c-41a7-aee3-7675daf66c8e CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca365856-5179-48f8-b452-89f73b634cfa CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04a62d42-bc50-4e50-97b5-57d2c2916456 CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f6fb48-0343-4319-996e-a8f5083d5108 CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15c1c461-e4f0-4487-a8b7-9f1306424328 CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020dbd73-257b-426e-a7f6-b08a130dcb75 CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3563601-f895-4be3-8ca2-2133ae4a5f56 CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288d7bd1-2989-40ef-a2e0-13f4e4dc0914 CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64df6210-163c-463d-9223-99d5f8b4a368 CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994b7fff-4bdd-43cf-b2b9-0e4cc76e6d37 CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69e0caba-a904-4bb4-b7d6-8ee2b0832b7d CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fc7937-9442-4839-9955-f39687b1ff75 CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ad4a404-de22-45ac-aa41-4411ca76ba94 CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fffcb1b-b245-43d5-ab58-5d88941aa99e CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c243758c-49bb-4a9e-aa53-55978113f721 CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c2b2a5-4e1f-4152-8a6e-0bef09187be6 CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c877790-cc8c-4526-907f-dc6c28b8dac1 CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9a0abd-4539-418b-9c62-f69a309a7181 CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5f69815-29bd-4c8d-9791-d67c5d1f04bc CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ebb79c-fc12-40a7-b653-29fe19b66444 CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9a74fb9-8467-4a62-8647-19ff823ec563 CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6735f935-4bad-468c-9103-2f042c18a6c4 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a382e011-a17b-4720-ab51-091ab12360f8 CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a98693f-c1c3-4724-80b5-f08d1df3f062 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4caa3113-b4f8-452c-8d13-f4dcae302998 CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba021e0e-2967-4d67-9299-f260d5bdf64d CA2580612100 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd27474f-0727-4d2e-b256-bf6772aa7219 CA2580612100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf912a6-e6d5-4a92-93f9-62361a86c540 CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2f5b6a7-e204-4ff3-bc39-c68a23aa0b1e CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f833752-19ab-4c3e-8f5f-c48aedc91588 CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3e97112-7b1a-4b93-ad69-5eeb624cf656 CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18e7bec-bdfd-4fcf-8841-687f1072fff0 CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7bb8b8f-9afb-422c-912b-cde9c1d66249 CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd046198-6b31-4061-a134-f7ff13052f2c CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ca3f8ce-eec6-4d08-a12f-f15e23d07743 CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fac8a2-4ac6-4b35-9a7b-1996b83a894c CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2dae4e01-2087-4be2-9696-af1ed77d8eaf CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe674f1-a7df-4bd0-ac92-a7dffae14592 CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 194fb4a0-f739-4e45-bde7-7b1d6b3f7548 CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d4236ee-28a8-4dcc-92ef-76159bc8a3fd CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2bed2715-7e1e-4e86-acf5-fc0f992430a3 CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5debe01-7ef9-4f9a-8e0e-5e56f9ff8192 CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03db809e-480d-40cc-83f0-1b6b4b636e25 CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980de496-38d8-4977-b4f7-7e81b9bd72ff CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b7a3a26-df5c-493f-b25b-a3442f2c48a8 CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8c300e-5f76-47d7-8c1f-e89b9adc87c2 CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 268bbc89-42ce-49e2-aff7-1b65187b03df CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7ac2ed-c5ea-4c55-8722-b1b741cad571 CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed91d94c-7c7e-4b4d-98b6-d99932689e63 CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16cb3aae-6912-4981-9ba9-b75e4d23e89e CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe29a920-ef2f-4cf6-804c-873f0b54d9ea CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29dfab7e-366c-425a-963a-d0a384e323ee CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5ea1e21-1a95-4bf3-9fbd-0c169b78b5b4 CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50a01f2-8a43-4cfd-87bc-f057c0c15e53 CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25d99cd1-1628-470d-93d8-9e2544baca1b CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb789a7-4efe-4ee2-ae80-e1393fb73bd7 CA386965309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45e8594b-e38f-4749-b4cb-4de1b3c61187 CA386965309 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03bd9947-7c5e-49ee-abc7-b9dcc95a4ca1 CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c335d9a1-e0e5-422e-9e7b-932802f9d5ac CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4dcfcd-56cf-4d21-a8bd-9395bce78ec7 CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c363ce34-5e74-4ba2-8ef8-ad035e614a9f CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08d3b9f-65fe-48f4-a2fb-16c0bfeb3799 CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 185e8c36-06be-472f-a865-bd2dd801afca CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5039204-5657-490b-a497-95c6a55dc405 CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c23fa3f-c5f5-44b9-865c-82c341d96abd CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ed38dc-5479-4d2c-887c-daac08c93991 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59a6fc37-9b26-447f-933c-39f9f37594eb CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534e896d-3292-4752-8b95-aaf8c5123fa4 CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57dd196b-3def-414a-90cc-a77c8e3dcf6e CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b813f71b-c15c-493b-86b0-1d76aefcc5d7 CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6101236b-985a-459e-86e3-3bd8310a9ecc CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3688925c-ae3d-4b99-81b0-d550e3157298 CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15125add-b56f-42e3-924a-500fc29c1b7b CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2fcbf5-9c47-4764-b0b4-b47810f3bbb7 CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc90f698-b9d8-44c1-a78c-61ff352e63ec CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f212183-1eef-4e8f-8ebf-7e9da0a758ea CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 614381a1-5309-4703-9611-ae9a32b05e43 CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae147a48-a350-44cd-b646-19217ad5ae52 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce180aa5-910d-452b-9373-606392425d9e CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7896a0cd-1d5c-4aca-be94-075a7146af83 CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70497dbd-7994-488f-8968-cde4137c7b04 CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb5e3a9-3786-48ce-a75a-40947829c54e CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1a0d813-531b-4515-a77f-f227be0b8364 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17a37a47-07a5-4f1b-9e14-39ffc7f2eaa8 CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8dcc39ea-8be5-4cb8-984d-a6fd6804cd5a CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e2b0ee-e1de-4197-8cb0-fe3b572d0cf3 CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd06323e-c81f-4cc3-93e5-d40234a53ce4 CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f986bf2e-5332-4a04-82a2-b4be454e3570 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a0f933a-9e25-4aef-a651-bab9e74904e1 CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421fb9ef-e254-4d5a-8308-3b484128ba31 CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06f23236-7b98-49c3-94cc-92540de8954e CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe435ec-47b4-4992-97f6-4e315172ac26 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27589278-8fa8-4ba0-9281-0ab481424ee5 CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4810900e-584a-4a9b-8983-bf66cd246449 CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba085a06-9bf3-4f5d-b1c9-a14142a51dac CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df9adaf-c928-4cd2-b1b4-29a2312a7c92 CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1997d62d-1078-49fa-9c61-ee8261f5f6b5 CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c2f8c8-71ac-4e9e-ab0d-3851f7b6d3f9 CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 737a33b0-85f9-4402-a35a-91580f04d87b CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb19de4-98ca-41f6-8f09-284ce2ab450d CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4ee65bb-2209-4e68-8fc4-1823764db0df CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc0d9c3-ea7e-4bae-9777-ac3370fe60e8 CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34eb6245-6cb7-4090-8935-2a69e627b43f CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e41db7-e4a2-4e99-90fb-37ec0d66babe CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee0b679a-b7d4-4e18-8e67-9c5138fa3dc4 CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da4cc2a9-48f1-448f-9dc8-39c91db19e12 CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4ebcb5e-46d8-4fd9-98ff-4bac3ef80f8f CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ced9cde-ada9-4360-8e9a-66693a77f82e CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 943fe51d-b315-4fc7-9714-120f86e04773 CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd6f988-187b-4175-8b2f-ab5368f5d550 CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31307869-fa9b-4a8c-9774-592e1fe5d59c CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d30d94b-acbf-452f-a66d-81a884e577a6 CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d61a59bd-4fcf-4b4e-bb3c-3583afc5bfcd CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de62233f-eb21-48fe-9723-1bfab00602fd CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffbeaa7d-3942-48cd-8b40-d22b0d8e6935 CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4cc772-dce4-438a-92e8-3dccd7a95acb CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c51bcdd-f738-4384-979b-b48b5f068b1e CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17bb7b5-36a8-4b4a-9bf7-0d9aa93f4fef CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0b9405e-6a62-49fe-845d-57a28ea9cff6 CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb89dca6-c159-4f15-8ef7-d1230c1b5bd8 CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19a9ec65-2db8-4c1e-8904-b312244d3eca CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84195ef-0d31-42a3-8036-e12cdfb964d0 CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93de6632-e904-4ced-b44a-5a85de1f9067 CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43cc60cd-e7f2-46eb-8218-a9ae047ba74c CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20246d03-b7f7-4c10-a98d-4bfd4f452c6a CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 415552ad-3ae5-45d5-95a0-a70b8f5f08bd CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 422e9740-300a-4488-8d80-09c04e80cbcf CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ebd59ac-678c-41d0-b1ea-3228144d2164 CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4aadb936-baeb-4c7b-b562-354c6ca4f2bd CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed023b41-999e-4e00-8f47-22388d67319b CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 371dae1a-3191-4498-b849-c06d8ef040ce CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a434f7-db82-42b7-92dc-7715df698172 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2495d8a7-a9fb-4711-860b-38b806b048ee CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2fd68a-c8aa-4327-b5ef-243e04a08f75 CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78f7dc5c-f596-490b-a89f-477c0fc68459 CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735e936a-0631-466f-817c-719f40308196 CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da76e4ea-f221-495c-9e8f-013c75ba8442 CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625755ae-72e1-4180-909f-42b9a771d283 CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f8b663d-1132-4501-96e3-a8ce06d9cde0 CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b2ba0b-416c-446f-a4be-e0c473c519ea CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96ff762d-025f-44d9-837f-97995c370a35 CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c640bd4-24fb-41c9-af7f-3cff7f706996 CLINVAR:2691837 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bfe12b7-959d-4f42-87f6-640145089f64 CLINVAR:2691837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5a48a0-8f5a-42ed-92a3-52b011e91626 CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6be8074-cd9d-4f5c-82a3-359266dcfd05 CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad8393a7-8eab-4086-9365-48fae4d57e04 CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 282b65e7-faf6-4e94-b817-3f31c503c5ba CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b406c2d4-e9a4-49b8-9707-97acf58a3ea2 CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 252d57bc-e153-405e-930d-112639bd6d68 CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42962cf2-dbf2-4983-a9ca-969d50132af3 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 342a596b-9d94-40ab-a370-7c3959b14bb9 CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c54922-2d45-4ed5-9983-d37a474b4bd1 CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b47fafa1-a27b-4d77-bdf5-6e6eb0f03980 CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95e38cc-2eb5-428d-85d5-07f5bc98f238 CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1128e900-c6c0-4cd4-aa48-bf2b6b46d240 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b73a552-d558-41df-a7bb-d95601bb3770 CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 036722af-d6ae-4319-8857-756f856f2245 CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efe20e5-8ef7-4f6d-932a-1db0af96c73f CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e59ff2e-25e8-4e56-8984-b20f2e97db6e CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69039869-8334-48b5-90c3-4db56c393ffc CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0b37008-d972-4dfe-81a2-24a9cc163e35 CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c0bbe4-2003-46af-ad64-ea24e1fecd20 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6807de18-82cf-4254-b8d6-b453c2dc0efc CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e5a9d16-d4a7-4d35-b90f-7e469ec1f4f0 CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc002a37-b0e1-42ae-9fe2-93a6942016a9 CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c805326-6db3-40e5-b2c3-2c9e33873631 CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d198579-34b2-41b3-8652-e47af8e37a1d CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692e060d-6719-4ad4-9b5f-4680b5e4fba5 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f107a280-7f3e-43ed-a56f-6a4e0b60634a CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ffd19de-b329-44b8-a726-faa595de9d04 CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2219c758-ea27-4955-9c9d-2025de51f4f9 CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbe4144-00be-4186-8db9-3057dc2bcae1 CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf34e76a-1dd3-4c6c-94cb-857783be9ea4 CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21810e36-3cd6-4d57-ba9b-d6f760e07a9b CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 102dcc78-a46b-4b95-8a3e-05d8fee3b340 CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57dbc03f-c0ef-4191-959c-03d10c27aa02 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c48e99df-b4ae-41be-982c-e5e75879970e CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29924f5e-46c4-405c-a60c-4db7374f2d7a CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc4ccf8f-d993-4749-9939-7d5eebc629d0 CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346777f1-dbcf-48b9-ad46-4b807828b642 CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67a3517c-7dd6-4855-95ec-14dbbc8235a2 CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e5845f-8b29-4cea-9676-f98c08c2e34d CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20a087ff-776e-4016-bfb0-87f570664acf CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58127067-6613-4e47-af71-cc0ec0559b06 CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aab7ebcf-2532-4831-863e-c06de3d4fe93 CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acfcc530-e5e6-44d4-b414-e20c188b1ced CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7d2f6ec-826c-4f6c-87e4-d4ebe7b79f36 CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8d6d7f-eeab-4bda-a25c-2e588dfc5d8e CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6bc9171-fecb-4b5c-8c1d-64159dc67a5a CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee06d81-3649-4e6d-9392-15f5cb23f581 CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f60ea467-1078-4860-a1e4-c3b9da107fce CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6d7c00-883f-473e-9a81-e3307555df77 CA2529312623 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2b36ac6-cf44-46db-a765-3383488a0555 CA2529312623 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac33e86-7514-406f-bf83-d6f7d2f668c3 CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db2d827d-a015-4045-99b2-312af4dbaa0a CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d765c461-2a5a-4363-9e7f-4c178a1777bb CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd76a28d-4b53-4edc-9c09-ad0f15c9a91e CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 298c52b0-69af-4dfc-a6ab-4ce4d8e2a2c7 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9d41c53-9366-4c22-bfaf-b92b8e32c3c1 CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7897ac24-a429-4706-9cbf-c22331620323 CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80962b51-ec50-4448-81d6-53d5782cf57a CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a03a9b49-0c50-4399-b957-ce8205716cc5 CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5c5749f-e5f4-40bf-afc3-0b2f83326957 CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db2f9f1-f8fe-4ace-bff1-1f7c1147e5d8 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33c174f8-0e74-459e-bde8-f53f28063d15 CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ebefc6-51db-40b2-9450-aa7e02863365 CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fddee450-cfc8-4993-8d63-e43ef30cead2 CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50daa20-1f05-47b7-a689-55e8aee24ec6 CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca1a6931-85d9-4ec3-8b4c-4a0f8ddd3252 CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f63deea0-67ff-44bd-b65b-e20d369118cc CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ab90b7a-1c7c-42bc-a4ec-e9a4a59421fd CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c84b23-5da5-4352-acce-1dc628548770 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22dbfa29-38f5-4a26-ab0c-96a059131773 CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e836b15-3145-467c-8e79-3f28dea436bb CA2579916788 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8e47e19-bb20-49c3-b38a-a64732534fe2 CA2579916788 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed8e06fb-5cad-4f69-bafd-77a0c7727de5 CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ebe40cc-08f0-4229-b677-b4d5c177b411 CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19635995-c6d5-4872-9043-32e7b1eb7bda CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 534a9051-c482-4f42-963e-f5f8f4b0fe4b CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36a5913-4fd3-4d9e-9ef6-a466b99f722d CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5468852-db14-4857-bb6b-68768d887408 CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0e4a73-9696-4e0f-81dd-15513f957cf0 CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dd8d8b1-b3e3-4d67-b426-c7615719867e CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9e0762-3d8f-44b6-a343-c5c51f3a490f CLINVAR:917495 biolink:genetically_associated_with MONDO:0000456 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen feb64c6a-de0b-4135-bf89-1edb951ee638 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506f3c0e-ffa5-4ba3-a14b-d0cfd286543d CLINVAR:917496 biolink:genetically_associated_with MONDO:0000456 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80e46d3d-1f4b-4808-b366-03ec3b211da6 CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01dd1ae2-9cf8-49c5-8b19-6e86b25e83ae CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e660dba7-bf70-4379-9e6e-0f6a02d12dcd CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c17dfbf-ea62-48fc-9bd1-282d83b91b06 CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a70a63f6-f553-47fb-809e-02905a03b15f CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a4e5c9-0553-46c1-8eb6-f19a88480f1b CLINVAR:231277 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6a92352-8357-4eb5-8932-c9d361745758 CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd39745-2398-4e37-85e3-3940cdd5b304 CLINVAR:135775 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52944348-6633-4a7f-a915-e8e02fb7510a CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933205be-802f-4347-9a93-c7c013e49caf CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a7961d8-4d61-4636-b235-22f06347f957 CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060392bc-ce5e-4e6a-8db8-4e0001e0de6a CLINVAR:407515 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b420f919-4ae1-49fd-8b74-f72a62eb155f CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c8f691-ac0d-418f-9cfc-0ef5150a56c1 CLINVAR:407510 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff54c542-fa55-4b9c-9f8a-965cf3bdd068 CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76edb85b-5ab4-49ee-93ae-5ae09526d95a CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 273c9344-9a12-449d-a79d-1d16ee617b4c CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e059d84f-9eed-420d-b787-cba65647b6cb CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55cdab17-b74e-4d10-902d-b7917fc4babf CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5334880-0283-471a-ba55-a73db6af1634 CA382533339 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 466f1924-5fcf-4159-9ab7-c19e52744404 CA382533339 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ae13915-7bba-4b39-9b3e-99b8bdf29e92 CLINVAR:569567 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f471ebd-3b06-400f-a903-9b17af192ecd CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7668d25-6d10-4747-825c-2d982d510a7a CLINVAR:1713223 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 763cb3d5-d4cd-4709-bf2b-07d3bc3fab97 CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4051a07f-a24e-4c98-b391-7b78674d1093 CA382556814 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d9be439-df6a-44b7-8c03-2f77993ad96a CA382556814 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6573d3bb-15f0-4221-95d5-2421212e292e CLINVAR:220121 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 038eb5e0-705d-48e4-8a1a-a08473d9b214 CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476567d5-d582-4e5d-9949-82dd58223201 CLINVAR:265634 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fab78346-de43-4985-8e6c-3bb196237616 CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e046c6a3-ae7e-4446-8e87-c0252bd12ce6 CLINVAR:127405 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d90c0fa7-6b40-4212-a9b6-89b2594db438 CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d249cca-ec19-42ef-bfb1-151bfb96af92 CLINVAR:141887 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec16de62-4cd0-4ac2-9083-1bcc2ba754b8 CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2376a5-e7b6-492c-8521-fadaf0e1dd89 CLINVAR:141474 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8d29381-533f-45af-bb26-05d9093b02aa CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc2596c-de46-43fa-b7e5-3622a5b6f2cf CLINVAR:141742 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c60c647-61a5-4318-ad52-b0756eb2ad52 CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23a9349-af81-475f-8ec7-bb91c05fdeca CLINVAR:216021 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f15668e8-22a2-431d-8839-77a70e345301 CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31ab211-92ed-4544-931e-98f1221b9dbc CLINVAR:556315 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d22f3d1-2a62-4e80-987a-89884239ad16 CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a591f3bd-0468-4c98-91bd-3480fe82ef15 CLINVAR:127463 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4591b1b-b262-40e9-a20a-b2cac26944cc CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0d71bea-c48f-4134-9258-8c9eeef59f1d CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1eade3e5-96a0-4a30-b928-d149f8166a3f CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f07e0fa-97e5-46c4-bdef-4700181f90dc CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c794ae0-2b40-48fd-88fa-4a0891fc39db CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1657035-b9ee-4229-8827-502e1c240892 CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9cc559d-423d-48ab-8a49-a5c4b8a295b9 CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e190a5e-cebc-4930-9851-3f18c803a87d CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 082bd0f1-ff2d-471d-b6d7-712048c00256 CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b843450d-9b07-4eb1-a6dd-d0385129d5f5 CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c46e9020-b790-455b-a274-74d5497cf1c0 CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f01d475-e427-477e-a092-7839240668ec CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21e6ffd3-0f43-446a-b3ee-fc05dfb987c2 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3461c8bc-7a0a-4266-b2bb-90a9398c6681 CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6423210-f50f-4729-9b4e-1948da89f0c0 CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c9c69b-0f14-43ad-822f-7fd333e4aae0 CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9590e1d9-7fec-4a3c-a75d-d5a487f849d7 CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b059be5c-216a-41eb-a63b-3f1ffc8984b9 CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8823e36-0bd6-4212-bcda-e44c6331cfa5 CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581b10a0-fe01-4153-aad6-758b60d0f171 CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5218da6-cfbd-4f0e-a776-7d45bc749f22 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e7bd47-172f-4c17-86d8-1c8a2708c365 CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 195b9d89-aa9c-4fa3-befd-090574594922 CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1095ca1c-a6cb-4757-9cc2-287548bbd5b3 CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efa9d468-1412-4064-98b6-d536b5d18d3a CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d1e697-286a-4125-a962-e754eb2f7eb3 CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b62bc75b-7542-483f-b54c-007a9de5fb44 CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db9befe-9ff2-4520-8181-178c97c069bf CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e60099b-ccb0-442f-a600-a978c335bb01 CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8eb6ecd-06ad-472d-81f3-b02db1877cc9 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97638bd3-79c3-48a5-9f7d-2743c32e9944 CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b45d33-edb6-417d-a5a5-c106248bc9a3 CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5badb3a-d383-486d-95a0-284117a82338 CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793dcfd2-27f0-4096-a573-6502342733c9 CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b2868bf-756a-4b04-bcaf-9d00cc0ecbe0 CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3a82d8-bb4e-4e90-a2b1-0914cb9a8e6a CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c2d5a60-9b6c-4dca-ac51-babfcd5e56f8 CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe56225-bb98-4f4b-85a4-9f2eec4a8eb1 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 927222e6-ddc7-471c-8289-df5266be1b16 CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd82369-6ed8-4421-a64e-d0bc5213eeae CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc91f9af-2936-47c8-a668-8e2229779e39 CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1508991a-cf0f-40be-a9d0-f1b067323dd4 CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1cef453-bdbc-4a0c-b2bb-96ba13988e8c CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4de60e-8a27-4bd5-8dac-fc33657175a6 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 293c8367-2f52-4e1e-be38-c44d25174cee CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edcf33cc-fed8-466b-a4da-b84837b96e72 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73698ea3-c581-45b5-b07f-e8dc7e1705e3 CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 740052c2-b863-4ec1-b20e-3548c8fa2edc CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64ff0a87-70f6-4210-ab07-1e7c1489a915 CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7595e4ec-1f16-4613-82de-b1f73d11fa3f CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae3478ee-5084-4479-a925-f13dd6db500a CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6e82ea-72e1-46e8-93d2-05bdbec7b154 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20ad3e7a-6b58-43b3-b600-53c2e35186b4 CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2df2ff3-d7df-4048-8217-f27a98350832 CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 472c2084-eebe-4701-8f81-455efc2db38b CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0faff6-a3aa-40ac-86e4-141044177a0a CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13f2f3d2-649c-4d4a-80bd-8e7e44003611 CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bee486c-c902-41ed-a935-9432aba6531e CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef384e70-bdc8-403e-b2df-e32a2828a695 CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2eb74e-af46-4c19-8166-e76c07b09710 CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f393099-8951-45e4-86b5-f546434de137 CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1db80e8-7fac-46b3-8082-d8742478fcbd CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30a3c9c7-0dde-4389-80ec-d9d8dd7044e0 CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33c5f6f-77e9-401d-8067-296b9fd00fe0 CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b326b20-1117-4de5-b79b-fb9513968e2e CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4934494d-6eff-4732-be2c-97a879632d79 CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5db419e6-f84f-4122-bab4-f875edea6bbd CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c130c2a4-bcd2-44a8-a582-9b5428fcca02 CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9998d67-37ed-4118-a430-8d50b834ae30 CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb982d1d-5759-45b6-9b5c-0062a9b5a652 CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3a7098d-98a9-435b-98ff-f90c3b962c9e CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61678c2-084b-4fd5-8259-3bcb21096032 CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b898e07a-0777-4ab9-a501-f6a7f6887e31 CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f75c8de5-106e-4f8a-965d-918d63c1a641 CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79d1cd9c-2e15-4f49-9900-bef8ff498618 CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4685f081-a174-4f91-b812-1ac5f91664b1 CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8fc8fa2-b63e-41cb-91b8-53b09b92b6fe CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04da1258-8d9c-4df3-b55b-9684ed4e06f3 CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ec92227-4cb8-4ccd-a9b5-3047b32b6fcb CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c185671c-eb70-4a06-8eb2-75eb33b11b55 CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74c3b071-9c44-4711-90dd-5b363af0a3dd CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d75b7927-1ff8-43cf-ad22-2bdccc4b5b3b CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7f5f526-90dc-460b-80e4-4987cbc2a02b CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a65527-95be-492d-be45-9e97d12a0265 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1741e358-04f2-4eb8-955e-ca1077135d8c CLINVAR:98860 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3ad2b6-bb77-4d57-89e4-7f89107b9817 CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa584125-3288-498e-868d-9a0e71b34674 CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6bb560-1de5-481f-b153-e26c5db8e0db CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afcf4257-555f-45db-9149-94c02f188d63 CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113992e6-14ec-4a48-923e-b8f9e5f4383a CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd8f83fe-1a30-4778-862c-744dbd3e1991 CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e678da-ed29-44a0-86f4-1a13d9129e48 CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3021feb5-d2e8-4e81-b8a8-bb7c5dc22da7 CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc7906a5-a5ba-4316-b4fd-a71f6d72c46d CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9dacb51-bd2f-4972-a70b-a765d06303c9 CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969a0557-79fa-49b3-b56b-393b1ec356ea CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd3fa862-416d-44e2-8417-c286fce1bc79 CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52cc9550-3e01-4720-8192-c7b45002a3f6 CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85b3ccfb-81bc-4347-8222-a3ec65f72143 CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74fe9256-4266-4589-a482-44c78a0434b1 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98988ed2-7011-49bc-9947-148278d6fe35 CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d93eaef-8a49-40eb-a7b6-605baaef847e CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1663af7a-de3b-4584-875c-59b880d9c2a5 CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb9adeb-68dc-4b19-8e4f-4004e9149881 CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b96173a-3425-4b90-98a3-bce5cb87990b CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f2d67da-4742-49ef-8f20-36693e263213 CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc482eb4-6033-4901-b79f-13da9f08d6a8 CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637b74dc-48eb-4ae3-aa2c-a03fd32c68bc CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f87e16f-8b45-4cb8-b14a-706711f0e5eb CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a275b8-61f8-4592-a66a-44df54fa50b2 CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc24a15a-084b-447e-a61a-fcc077cd2f23 CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8662dd83-103f-492d-8ef1-5e9d63cd5124 CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0948f7a7-12ce-46c3-b2e7-a348d3586c5c CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39acb4d9-3503-47c8-8db5-3456eacb2a5d CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4390451-b52c-4840-8718-5b9d4141a3ac CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b08110-0c5d-41d8-92a9-34036a58208c CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d7f4f86-15ff-4a0c-8b35-678c4ff9c36e CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26026cca-55c1-4f6e-8e25-700e18678edc CA915940777 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3840b39-df15-4f55-af57-9158fbe1a2ad CA915940777 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80736613-25b7-4cdd-b20e-ea8e68838a61 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51f9a235-0556-418e-80bc-ddc2cb16e959 CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c78c2a-5168-4d9e-812c-ba860541ec3b CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35077671-33a6-434b-a280-38e650d69989 CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe1de22-3ba8-48aa-81b1-e625d007877c CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a92b5a23-850e-4816-9dde-7a16eeb4af33 CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef8369a-2df8-4919-8a4c-ff77eb46970c CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 145ed6e2-0ee1-4e64-aa99-747c327bd675 CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b7406a-ac25-46f1-a80a-7a00972d0142 CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a734044c-eeda-4d51-9aa4-dccc2bbf147e CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8f5cda-4c86-45fe-94f0-a4183a64bc21 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b81d304d-fbb8-4404-a5bd-5f4860c0d238 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabaa3cc-1148-416b-a438-ed86e83bdb73 CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d186ffd0-1dd1-498b-98bc-943275778cd1 CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87aef9b-b173-47fc-8f4f-5014f0da508a CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c9f30d0-0984-48e9-b7c8-11ce8fc73762 CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf54adb4-33be-4b79-b632-364478e45a8b CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f98dfd50-40eb-4d1c-bd58-434c8d9dcb0b CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85b2ebb-e966-4e14-b656-6ac106d0958e CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0804ab27-36dc-4f15-a707-884a131ed4df CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e42f389-d726-4cc0-acb4-fd18be61f63e CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4007727d-598c-49d9-8255-e0eebc532753 CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3221164-c3ef-412a-bcb2-b3ae2e498566 CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3b3212a-bd98-4430-930c-a7c2c1841f4d CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74113b5-7b92-4560-951f-bf3a3b02bc8c CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bc3f619-fdb4-4fe3-ae6d-0c329504ec8b CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 649bb631-d978-4b60-acad-0eeb2d0236de CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f59767ce-3292-4a48-99ce-bc8c87b3061d CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6838509f-5ba2-4890-a0ce-22a29930463e CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bbd7b32-9508-41f6-b2d6-524d61a7fd0f CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255e38a9-465f-4aad-ac3f-fad9d571b48c CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ede28d3e-e369-47b0-918b-c531d31447a4 CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd0b144-ec0a-4305-afde-95d6861bbc5f CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c317327f-e395-48cd-bd62-2e2ff8a30fcc CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77521474-8000-40c0-bfc4-c546d425fd85 CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f5ab5d9-0a12-43d4-898e-9ddd61c34ed0 CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7585ce-90a4-490e-ac8c-7811f21da8ce CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fddf58a3-fff7-4389-bf85-dda9c0419e87 CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47829da4-780e-4333-934c-54ff0478f8b6 CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c134aeb-0406-4c7a-b63f-386ab6b10433 CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5157a2ca-6679-4368-915c-e3cce21c7b0d CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91b5d6b7-7ebe-47bb-8b7c-727c77f5b73f CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b0b548-7be8-44be-9332-cdec914ef441 CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2144a7d5-82b3-48a0-94ea-ef0a841be11e CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e088871c-39ac-4053-9953-1aa1b1a2c183 CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 188a8ca4-01e5-4324-933e-8671ac3cbdd9 CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c7e20f3-9584-45da-8cef-d00a8d4bb4a2 CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84eb635d-7652-429c-90d7-4a49cb998ca4 CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f821a7d8-b690-4545-8185-527abb98e1a8 CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fd0bd57-30fc-450d-b6c0-f8b027df9973 CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9fd2c4f-7ee6-4ed6-9618-6747a18ad44f CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 907beaea-b9b7-4b64-9bbc-d4b257473289 CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c635a5d-675d-4c03-80e5-6499d7d46c08 CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be60e759-8544-4251-b7b1-6b5d017938c8 CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2acff2-4bc4-4a29-b7c2-2b7a97a6ede5 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ee67e1e-7769-4bbd-8086-8457db616e59 CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2585db-7688-40ff-afb5-d20af1cab616 CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dde8f3a8-f2c2-4959-b025-ed1875e2657b CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca165efa-129e-495b-b224-4c4276ad58d5 CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24ef4910-d5bd-4440-ae1c-584e528c2342 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0142c7f-2764-45db-8e40-5396b4585f76 CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 294bd916-2df9-4b5b-afbf-c9c18db3fee2 CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2aab60-a017-46ce-9239-c13d0d9a7947 CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48a2214d-6411-4bc0-b283-83949ae98d3f CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67da0203-f8bd-41f8-9f93-8be8125feaef CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 392008f0-e6f1-463c-8791-9fb57e3a1dee CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc24048-8ea1-45dc-96b8-5eb7151c4313 CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff1b4bea-a0cc-46b7-8462-b49a92adf094 CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f5e5c5-491f-4551-8d6d-f2b0b6005b15 CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f907dd0-237c-4181-b40b-9fe4f4d363ca CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2978a5-66c4-43cd-b355-87fbd94f8a46 CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a502107-03da-4fab-a29c-8ab4777f1715 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 622acd23-a3bd-4392-9d5a-8130b16ebc89 CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bdad44d1-c608-413f-8e97-8d92dfa92dff CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b4e554-ed06-4bc2-810f-c3268487e2fb CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02b35c75-e3b2-4dd1-8708-8c003c1c34f3 CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd4c14c-5415-4c41-975f-bdc7ee6693ba CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50f6fa19-cea7-434f-976c-b3f58bb84504 CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f0c4eb2-1bc6-429f-8695-5230429f1103 CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50876fc5-0990-4e01-ae55-a7a2d6037063 CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb67d65-98f3-473f-8f10-fb66a2171275 CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73ab1985-f6fb-4dc3-b0e0-48b3a599a5fc CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0b3d52-75ea-4fcd-afeb-59f5ef4283be CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc3e1673-3210-4e5e-b9a6-76037a0f6494 CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0ea3ae-1b19-4df0-bd93-0351b5e28aa4 CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9af7cae-bb86-495c-8337-bf747bb7a914 CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612de9c4-c443-4ddb-849c-5238bf259455 CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89dc9634-8477-4ab4-a244-68463709c5a7 CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309c9e36-ef79-448d-aaf5-fa47eec128e9 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e7e3056-09c5-4c4f-80e6-30e116f32f18 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4727c8f2-6f9a-4f77-b155-941f38104ac7 CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b479f9ea-6d6b-47d9-b6f1-9b31e69b2567 CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f645d583-e0cb-41a0-b95d-4246fe52c054 CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb5efb5e-32be-4bbf-a0d2-b1f5c35f3fda CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de55dd0b-e4a0-4306-898a-076686ab7b83 CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53a8a146-5bf2-4717-9fd5-c9bf11694af3 CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058e6ebb-b2fc-484f-81c9-bf7d4e0baf06 CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fb5a052-8a73-40a2-b2cc-8f5f611b8965 CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27af4001-3bd3-416d-8f93-f78f10755ab5 CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93503b42-25de-4c0e-960a-ca01f3af3b1d CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3f1b00-a738-401f-978f-395a124cdc09 CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1d568ff-d28d-4012-8152-2668b6c5330b CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a2ab83-1844-493c-aba2-a8b5e3fde478 CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a526eb1-0440-4865-afff-9677acec0e0b CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf3fa01-4b40-4d78-9f9e-478e39fe5864 CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98d349dd-dcc3-48a6-961b-2dc3c6057546 CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6496c24-82fd-4960-9d06-dff29c85f64d CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0743bf58-d08f-400a-8662-a1f4a7283a35 CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f22e12-c3d1-433a-b5ef-d2634e1ef4e1 CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67ade2e2-c831-445b-9389-937b8e7d19a3 CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff0d898d-311e-473e-b165-93f58d89ad25 CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a31bcbdf-edd4-40da-aa0e-df4b5e829476 CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53198a23-c50c-4fd9-afe1-5603f7df149b CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dd687d7-b76c-4b90-b8ec-dad8b067b6b7 CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90bfd91f-c0a7-4c01-aeea-de8a3263e347 CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 945db8fd-b316-4b84-91a5-454cca8c1116 CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f593b690-ccc0-4129-8ec9-13920933988f CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e36095e-88f6-40c1-a992-770920def60f CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a1796d-6687-4aa8-aed2-05e53409a128 CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e312cd8-0c26-4a67-8b1e-5f1eae0cb30d CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db37de2d-9a45-4463-b8b2-8dc999c4139e CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0b4eafd-b9f4-4ffe-9fb6-58f9f49c8592 CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4441f24-fa87-4f19-b1ef-0ab54cdfbd7c CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da5cf5db-41a6-4e64-80df-5614d3c8002c CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2aa8384-0df0-4f12-b94e-6ea986963acb CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97105651-15f9-4d3d-9688-12212ccb056b CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17b5dbf-a200-4090-9880-1f2adb47a134 CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 140bc758-2634-40dd-955a-b43d6a7cde40 CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e1acba-f29b-49ae-8aed-0c38e54da3c5 CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e44555c2-31bc-4b30-94af-8227584344c5 CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19853da2-de8a-462b-b06a-c401d54ddeaa CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fcbcb870-ff11-4bcc-9145-fa956980d53d CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 755dc42b-2813-42e8-be18-c84ffd6a854a CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffecfbdd-f8c8-4560-9bdc-f528d2b29c2d CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f77ca4-890f-45b1-b3b7-752fdd7fe188 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 902b9edd-a4a8-44fa-88be-d7dcc0d9a84d CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 804d28c9-4f41-4567-b05c-19faf7596c6b CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db96bcfd-9e75-420e-bebb-a2efa3282d33 CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078bf14c-20b2-49bd-9493-34456ad13160 CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa889896-7b2f-4702-a0b2-3cef57d8d558 CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27fd68d-ca08-48c9-8b03-689af7250da8 CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ce3ffd3-0d19-441f-9dc6-461f379cce53 CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edceb671-fbfb-4062-835c-7ac9aa81b0c3 CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b23e5728-bf72-4a90-a99e-5e6d6e716281 CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79012cc3-8a80-4b2a-8ccc-54da21482a32 CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ef4e147-f2d0-4bb0-ae3d-dd246e4aafb9 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64084952-dc09-4f3c-a1f5-b1118c40e452 CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1192223a-6cf3-4ec2-8f53-34720afc3756 CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31ac9dc-493f-443d-a3c1-ee07705fbbe8 CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37bd1936-3a55-496c-a43a-47c3d9aa56cb CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed3bfee-d993-4940-92c3-c459ff2d1020 CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47e42244-7ec6-42e4-b38d-217f7b2dfb86 CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f43f499-c3a3-46fe-a55f-d37035ef4a8d CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e77bc99-f1ce-4da4-9c0f-955055f1c781 CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e7f66e-3152-4b91-a906-b88b422d5f56 CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a37aeac2-e43a-4863-af9c-0149fa092656 CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b121998-3d10-4079-8604-193d11b7ea05 CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad47a676-905f-48ac-ba6d-8a30b757c89c CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d7d0d3-384d-4477-b7ae-2f600b3e6f6a CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2417bbbd-f760-439c-867c-57e8d7b0b41d CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada2e8e5-a08d-4ea5-9623-a16ef4806726 CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38179c5e-da4f-4934-acdf-35bc3bac1636 CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4006d1b3-3b53-4965-82d8-96a74f95a7df CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 734b4e29-7340-4a80-9a15-0d9c69633258 CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5824edd-c914-4cdf-a289-0fbaf82ab219 CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0346e71f-20fe-44e5-aa7f-a220bf5b5074 CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31c652f-12c1-41ca-ac3c-f123ec071b50 CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9196fbcf-94b0-4423-a848-af5e6f231ad2 CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cc8768-0c1b-4acf-b270-a34118d426c5 CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 633f0091-c7da-44e9-967e-1a318c3007b9 CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1202569b-f33f-4477-88d3-a8b6a735322c CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a77eee7-d3ce-4cbc-97a0-34d0439878be CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa0e8a42-19d7-4dcb-95d3-ff3c5c2aa05d CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be5b2abd-641b-494f-8500-79e7c284aaf0 CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029e8eda-7218-4426-a4a1-bc16414c7a4b CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 275d80f6-ba13-4a56-9daa-4dd04abb902d CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4882c42f-4eff-4bb5-b61e-ed02fbd0fc6d CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55b920a3-af8f-44ce-ac7d-de32a03a6ecd CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2243c327-c0b6-40d0-b1e7-f9889860c777 CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ee473d8-089e-4a90-9585-0d640c2835a5 CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38f40a9-cbff-4c65-822a-f55339523d5e CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66e6fd7e-61f3-4916-9ed5-ffae9441dd2f CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8d26de-56bd-46d8-b978-09a7be62f222 CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1289b3a-68b3-4a15-849c-b052362d337e CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c3e44be-451e-4daa-812b-a5547b418251 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2372ebb2-e923-4b22-afaf-d5a9aecac8cb CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eea2fd2-fa32-4a13-88b1-7b6077fab21d CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d612fbbd-c67f-4798-a898-ab32238eb67e CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43503c57-6832-4433-84a2-7772c05ffa9c CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa3b8270-7103-4e69-b107-b38695e273bd CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c70b5a2-0a17-4028-9791-e013cfb0176e CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d9386f6-979f-434d-a340-0288f3873cd8 CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247c27b1-a4ba-4d13-ad90-b54a9899dfbf CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68642950-68d9-4475-b81c-b0bf7fcf4997 CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2307636-d489-4d28-95f6-d7bd090e6417 CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c280cf9-41e6-4877-8e5b-e9776fca0647 CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8b36b9-73c0-4f60-ab71-778e62216e20 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a963e7dc-d94e-487c-abea-4b1640579d98 CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540cf762-5eb6-418f-906a-2455899e802a CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b77d07dd-64a7-4936-a64a-4ad54dc2c155 CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b117ea-74d5-4e46-934e-ecd6e84a74ce CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97d2561d-06c6-4930-bcc5-56678c4bd21e CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68e6ddd4-056a-4395-a2ec-2b43b7548678 CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f543457-04d0-41ea-ba8e-1ba6a93b48f8 CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f86edc-63b3-4db8-8ef6-9d8ae9e9360c CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82208b2e-b865-4b14-ac44-11ac571b6d94 CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919aaae6-aec7-41d6-b6ba-0658b8851f6d CA2695202143 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 225eaea3-d722-4d57-a312-1a6440142cc4 CA2695202143 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa5b4d6-0002-44f5-88f0-bed6df4bd0f0 CA2695202151 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6ff9d1c-f9f7-47b1-aa35-375f7cd0a722 CA2695202151 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2854bc-c625-40f4-911b-898bb742433b CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1af34c9-1f3b-4cb7-a230-43c9d0494e9d CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d53e26-6e83-46ad-bb0d-70bc4c6a965b CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9bf5bcc-b2af-4ba8-ae54-bea67d15d25d CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0f1e2f-4c28-44cf-8c5f-39b8e21eb083 CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 697b7ae9-5dee-48bc-8892-765cbe20c15f CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30961132-aab6-4456-85e7-6f9f201d056d CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50164821-b3a0-49c1-b7fa-e3015845553e CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf5e722-351d-4c1c-b833-92c5dda96714 CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44a0d16f-490f-4115-aa66-7439ef479f5f CLINVAR:162369 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 925f7154-872f-4ef9-bda0-4c96e62cad15 CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b070e1d0-dd86-43fb-9b60-353bd3ebeb08 CLINVAR:9654 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59aeb360-7a93-418d-b6d7-2f8ecb6baeb8 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c24b358-64b5-4ce2-9021-5a12ab828bf5 CLINVAR:9669 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee42413-f300-486a-a1cf-3541edbc69a2 CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d60dd9c-9142-4b6b-a319-97331ead11e5 CLINVAR:9668 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7516188-f6c1-4fff-a40c-083e829a3249 CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ccf27a90-817b-478c-855f-4ed9a6e134cb CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c771c2d-e431-4dcc-b652-b174ae2b56a3 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ea701ac-aaa5-46ef-ac08-ef4cba99a5af CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41e5068-dbc8-4758-b702-f04e570e487f CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26cf0128-d345-4dfe-a38d-1dcc7db34d4a CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a39c81-4b5c-4b0d-aa0d-96331703ecd1 CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46117701-c9b4-4696-a0fd-644730f19c22 CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ce2370-df55-4582-a567-c4abb1f1a9eb CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 822170fd-1ea8-4693-bd5b-b6bedc0c811c CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8817f166-1886-4e05-a2c7-74ab617066cf CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e1d1eb2-2552-4fef-94b5-3edb25a4ed96 CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbf8c449-c347-448c-862d-cd25345d1d82 CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f51a0e01-fccc-4316-81f0-da61397b3008 CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c46cbf-b07d-4796-bdd7-9f4a9461bc20 CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9936ce3-8971-4a2e-8812-20aba99ea13f CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22784faf-3b37-481b-88f7-27b42e2d54c3 CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 280e4c36-898b-417d-a74e-8dd51ba7f2e5 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af27eb2d-2dc7-4cef-8b65-7e50aefb306c CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61bd7312-70a7-44f3-8d1e-25ff158c0e1a CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3fe77a4-968a-4b57-aeee-b1d02d3d42ea CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51e4c449-bccb-427a-bd37-31333c9832e7 CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367bb9fd-1d85-4084-ac30-1a3b2737912c CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd17c2c2-8b04-4bac-81da-505fce582253 CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ab3458-1780-4e9f-a330-d6d1f179d6d6 CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2ad8636-2281-4645-b152-0c3400907612 CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a970fe2-7a3c-4735-8771-5666cfb89266 CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adbf8d75-a3a0-4da5-a6e8-1d7a9a74d75c CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717bcfe2-0f05-4f0f-914f-41d89cb2b448 CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df05db3e-da1d-4055-be48-15d41ad0f65a CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7bb9d1-06ab-4465-9598-c861b2a552a4 CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 103c97d8-f350-47ae-8bf5-47ca3a5dfc2b CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8220c8-7ba6-4629-89db-1362628cec44 CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1444b2a4-3aa1-461f-8763-9565fdf296f9 CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c26f10e-6786-4822-bd58-60e6b17ee182 CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fa84dfb-9be3-4ea5-8873-d8a67b6436ff CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4d4473-5ab9-4a4f-b119-1511c9e3b5e6 CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba08fff8-3796-4fdd-b1a0-cd80ccd87e14 CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc58975-5b10-4120-a619-9c795316f37e CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5439646-9af4-4dab-83d1-3227ce0618fb CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfbb66b-f05a-478c-b832-ed20f022bb9e CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2784722-acd8-497e-851f-a842f60a110c CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18bd757-9c29-44fe-8112-c4dc45046fe3 CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6220d2c5-bd51-4b6d-b7af-381ddb669f1c CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7777e9-0c75-4efc-bd35-b62fcc132e2b CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c14a6e1-9818-4769-8cda-9eee8382b310 CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8858a3-9953-49a6-8bf8-566fc37c5048 CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 323df36e-17ff-488b-83e7-b1b8edaccf03 CLINVAR:9664 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05911b90-ceed-4f2a-8bd7-60a6c58073e6 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c5b8e138-6668-407d-b2cc-da544200f1ff CLINVAR:800503 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbce016c-03dd-421d-a6cc-f5c985b5bff1 CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5612bf4f-a721-4d66-a66d-d3c0e9a14fa1 CLINVAR:9686 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93129aee-2d26-40bd-b749-62eb1396602f CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edc4df05-7b6f-4d98-9b63-efe8ee1eff72 CLINVAR:693440 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1de641a-9f42-4ced-82ee-fe13a24517bd CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09bd4dc5-b76e-46a8-84f6-11c8f01b8ee4 CLINVAR:156375 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a315518c-d2af-4454-a320-615e3dd96ebd CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c95cc736-5fd9-460c-8e53-6cdc8f625558 CLINVAR:9604 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f120ca1e-4c38-4d74-b46b-6b1e5b3238d7 CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd32e28e-1d0d-4b39-9e0a-fe991c79ce08 CLINVAR:690169 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ffc899a-3131-4afa-9771-e05c8878f154 CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de9593c5-1d37-445d-ac9b-c69deae7ad53 CLINVAR:690161 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c6aabd-2e08-47fe-9cee-e2decb2d20f7 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7cc2721-e85a-4679-a8e1-56a72e7b0ee2 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0365eb24-7cb3-42d5-8ea5-1a087e47debe CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4130bfd3-292e-4bf3-8b58-2962369c4f02 CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1579d03b-697a-4c70-8b8b-9208985effb8 CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0341fd76-30a2-4725-80bd-5e1b98f0e016 CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b3691e-5ae8-4bde-b401-edb103308d9e CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2606cd7c-69a5-4b65-9e94-2b6b9c398973 CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55eae8e6-f3a4-4ad4-a89c-061e27046153 CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5ff2a38-38e7-43c7-8ff3-a2e1bea1ac4b CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc7d168-4aca-4767-99e7-eb9cd915fba2 CA2582131064 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c717f9ef-93d4-43b7-a5c3-b98f07354dfc CA2582131064 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506cd5af-f469-4bad-8af9-79345a78bdbc CA415077486 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0df1db4-733c-41c5-971c-6e425b64c83e CA415077486 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec5041c-e27a-475b-afd2-27a761faae73 CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4426d634-c687-40ea-8399-889e8f94e713 CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9bc785-b816-465a-ab1b-91f5d31d718a CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35d7aae2-6f7f-4dec-bdee-323d2b473686 CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db73de0c-4c4d-4898-9c94-395917af3618 CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 401565af-90f1-484c-9a48-5724ef95cffb CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972408bd-ad8f-4af3-9b56-ee286a6d8c17 CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4dcd4b01-8dc8-4f9f-8925-8af88734cc67 CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5000e244-a329-4260-98bd-2dc047633921 CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 081fbee3-f3ea-4586-800e-b3ea51e08f92 CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96182dca-4ecd-4b99-8dbb-216e8626acd2 CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dd41931-43fb-4b61-a935-f8d33884a1a6 CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae61e970-5ad2-4a08-8917-757e4d1332b3 CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17c24810-1782-42c3-a2ab-f856f9fb914a CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe45543-dcc1-4a8f-a273-57efa5d36bf9 CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8661b537-8add-499c-89be-137388f5ceeb CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0946aee-5ce4-482c-9882-e195ce3b4d0b CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abb13ff8-e555-45a8-aab8-ea92684719b9 CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4954d2fb-e704-407b-98ca-0423b985b3e2 CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8714c7c1-fe73-43ed-bc8e-4b1e534862a0 CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a425273-1bf2-4777-b54d-7fcc6411d1f7 CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1ef2d9f-cbfb-4f6d-a7ab-c51a8925ea3a CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df95e99-d91b-4410-8324-11477b9058b3 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ebb2fda2-4654-4bfa-9948-13b0ae6c91c9 CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79575c03-0083-4d07-831a-cdebf5e22c56 CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56916261-57a2-40bc-ab68-8acc0cfaff47 CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b0a462-460e-48e7-834a-081145927e03 CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51d2a421-972a-4514-8466-083f418af0ce CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4342b217-7f63-451b-8c20-e80b0829a65b CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38ba3564-0b7c-4592-882b-1bb68150488a CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d302a631-2388-4295-b3d1-f00e5e40023e CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf45301a-ba95-43e6-81fa-9f27b8376663 CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4e3725-d08f-409d-b011-e17edf35df01 CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a091169b-9697-45a9-8701-d182e734790f CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de484612-f66e-458c-a6b1-96978ab152ec CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76102a6a-8a62-4313-a179-29dd3f2066c7 CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117958c3-5f7a-4707-ab07-87ebbacf3aaf CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3c27e7b-b2ea-4ec7-9fa0-42227af7186f CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f51d2f-9b62-4c18-a9e5-5fdf43ab8040 CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f7adb58-f815-4da1-9854-88e76e527741 CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab399e8-2990-4fcb-9c29-0333257d42dd CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f5a9146-c377-4dd5-8600-7d4229f1cf07 CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71bde34c-f427-44ec-9dae-a835ce95581e CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 724e5c81-a90b-4af0-81f3-4647e830cd85 CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 642f7b47-62b8-4657-b25b-6e398211e98d CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5902891f-89c1-40d6-86fd-f127f493a95b CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab4efdb-aab4-4f85-8a0e-07cf490c7c5a CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95fdbe44-7b86-40d0-9636-ead6359a3fc7 CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c6b184-5047-4944-a9c3-b999cb50a7eb CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 190ea0c6-b52a-4604-b9a0-d2fada7db4f7 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3167227-a102-4804-8df8-32548d0ff98b CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9127a458-7c2d-452d-bde0-b1d89d9f624f CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a6f078-5153-4fcf-a7ca-e73a993a5c2b CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 309fc5b2-f31c-4b9b-b826-31c8af75a841 CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb1f3053-211e-4984-af05-9eff855a9e19 CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83299c90-3672-4d32-9814-0df4c97eb69e CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea956fdc-ee24-4b94-b2ad-d79c041a8706 CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11768ac9-6741-45ca-aedb-2516aff7f2b5 CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75dda8d-bb3c-47d4-b863-48b1bc866860 CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 662e2b2e-042e-47f1-af72-f73ed85803ea CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd43d63-06d0-4d9e-8548-a29b74dadee6 CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee749ac6-4283-4c96-95e4-0bc1699202df CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bca5bb9-5fc9-4011-a74b-07e0142e7d8d CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 584fa016-c469-4cb3-a752-d631afaca8b7 CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a98f2fe-436d-4f7d-baba-bbb172d3cc43 CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b73f8b9f-0ad5-470e-8968-8a91072c1d6c CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d07ffbb-b225-4ee7-8c19-7ffe1f6ad01c CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26a30313-5e54-44d4-a996-1d396e78140f CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bdc27a6-99dc-4652-a379-a212ecb9fc2c CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44d728c9-c531-4422-81da-b1d4dd1ae034 CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8671865a-e88c-4669-8b5d-036693d95cdc CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4b306b7-7d35-4450-a2bf-8bdbb9bfab0a CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac19691a-ff6e-43b9-afb0-e6452b363ff0 CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0c14bfa-d5b5-4172-a2fa-90af99f71068 CLINVAR:692768 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 656e0e0a-5c1d-44ca-b893-5135020b0841 CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6b3068b-d83a-4a20-98b5-4f54fd2ac080 CLINVAR:42227 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3994ad17-7798-4b62-8e8b-cc391fd820b5 CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fd5b64d-e955-45b1-b9a8-eacfa1943eac CLINVAR:9719 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6789b9d-6ad6-4e93-b507-07edca9d574c CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b10603c4-557a-4aec-831b-83ce9a1eaac4 CLINVAR:9697 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af36556f-322a-4ecb-b08f-1a3288959efc CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbb77b97-36eb-48c3-8b23-d4e0b8f1a798 CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0025d7a0-e2ec-4d15-bbc4-fdb03e9fb02f CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1980efab-b815-452e-a1a3-74efc2f9ba56 CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eec53ae6-dd36-4ad8-83c4-12275a58bd75 CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98acb768-a281-4987-9b05-556f4412b2ed CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b2aa73-0992-478a-94b9-cdd4f2b33f26 CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0327a9d1-8111-49e6-aad0-327d16a44d05 CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33cc843-bc4a-438b-9e5b-c44d10436049 CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26f282bc-321f-4b82-bf45-e4752f964b54 CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e0a1b3-ac16-4182-b87c-56da2060285c CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 689d4d81-7526-4c1a-828a-e87135656554 CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa6e789-73c7-4fc7-8707-0ea05542350c CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 144f5fa3-2875-4eb9-a877-5c8682750f9a CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38be3f43-6fc5-4537-bdc3-b7ff42bc9baf CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d9b8166-3a03-4408-8779-81add21ccb53 CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4039005-4047-4113-b63a-531ce070612b CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4a44fd1-696f-4bba-b685-37ff3c2baf4b CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35492769-cc00-4667-a55c-c96c93a23257 CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2711557-a590-464e-9661-5618c396d8b3 CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96cdc9f1-3ba2-48c7-9e77-5fdeaf98ae85 CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c860e7d4-2964-4672-a31c-4c599ff580c9 CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe0d66b-3605-4045-b556-f2033c00b0a6 CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9a96a6b-86dc-4c37-88ed-fa8f1875dd71 CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414b16d6-5592-44f8-b436-8fcdc877e5c0 CA10549369 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38271337-0ade-4ddd-8c98-dff1c1e395af CA10549369 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2757ae-00f2-44ce-82c1-b9c6848b101c CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74166049-832f-403a-b104-67513e306461 CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f6850fd-55b5-4861-bd71-2628406d5f5a CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf38f20d-4f1d-445d-9075-d58ec927f02a CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03b9968-561b-488b-ba66-b43ed85f05a2 CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64257228-3bbb-48d0-986a-5c136c0c8d65 CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2417a365-5953-4d46-b9a6-fc2b3ef0f4e2 CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 113ae036-ccae-45b9-b5c4-d6d33aade0d2 CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9a66f8-8972-44c2-84ec-89e99e6a2555 CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 958ab613-d3b1-434c-aa73-d7b4bdd4fd00 CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83357596-a1da-4624-9452-82f0754a8774 CA2582119824 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9367512-c387-4198-8de6-cc9a8b134ea4 CA2582119824 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73109a5e-00a5-40b9-9e5e-7efabab5a80c CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e84af98d-1f49-4aea-b191-394f13eea006 CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca229d8-e1ca-47d4-a371-b9679c0ab0ff CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b0d7690-bc51-444b-a4cc-79005383e78b CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9f7917-b9b1-4ead-9967-053e026c0c5b CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5991c001-6cd7-4de3-aef3-25a59a4d3731 CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a9f5279-1408-404e-89bd-467bf8b491d7 CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f184546b-5a97-4aba-a87c-9dca116dc906 CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6119ae-cd2d-4188-9065-e59c458194ed CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff2261bb-d7a4-4b1e-b57b-9d923480e975 CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8359e84e-e83d-4150-9400-0cc05a13f337 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30b10211-2c81-48ac-b695-6ce9622d6bfc CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b6db5e-788b-40f4-a071-6b8db9090ab3 CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31e96249-c4fb-43ee-854a-123e73e18045 CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca7841f-b0ce-4ef1-869a-e1b7255d7c12 CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa548a03-915c-433c-97d9-88f3de9c964b CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fddbb19-3cbb-43ed-b523-710bddfa85ff CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4c779ab-6821-4f4a-b0f6-0ca5b5b88454 CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b455f2db-f3e4-4543-a809-f78738ae8b62 CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0e533ee-55c6-4790-aad3-18c795a4131c CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424f9e37-fbf6-4d45-b8f5-c06ce0019a97 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17e53ff7-507c-43fd-8f25-91173597ba38 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6a1d85b-257f-4778-bc40-2a4ba1ad2787 CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f69582ad-d6c1-4780-855a-cb0a4bdc8f47 CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2fdc257-faf7-4c26-9ab2-3bac2f045d6f CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 470b3f24-8063-495a-92a9-74efcc599e3f CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92388b51-a5d3-40af-8ff5-4ae2341e3730 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a925813-cc14-4d8e-ac46-fe366ffc8774 CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2e6314-e198-44d6-a728-f920f8f45bbf CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ea6cc81-0c0f-4f7f-8d99-8d9e4c8dc2a8 CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ea8065-f6c5-4baf-b83d-d30a2703091f CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50aba3ea-5039-4419-9399-57ef0d94c772 CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd8628d5-8920-4c7b-a846-ffc2f21ef1f5 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 248bff3d-e67e-4192-abc4-dd74519f917e CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9939df-fa2d-4e64-9dee-739f8242943e CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40c8deaf-89de-4408-8a09-d9c38eb06349 CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3cc195f-9376-47d4-a9e5-3047ec752b6d CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c851b276-11ac-478d-92ce-e3164281d8db CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174376bf-44b3-4d22-97eb-08706d318b55 CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2927679d-b6aa-40d2-a45f-cb3ba8990b22 CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ed94ae-4a8c-4855-a512-64da08b2f11a CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7817560b-5166-4b6a-bf05-57450ab7943f CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9f5f56-112e-466f-a855-35674aae1cea CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72b1c89e-5541-4802-a27b-b2304ca8656d CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80c9fb0-64b3-4eab-8e05-bd4089cc62d4 CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd39c2a9-f70b-4b79-96b3-933968ff62c9 CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc507e4e-9a10-4431-bad2-e983ca48ae50 CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e875d43-1330-4ff7-978f-f6352f80cfca CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7fc961-d092-4dc1-a8c2-377f8493f5a7 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c451378a-112b-46b1-8bd3-55434768c801 CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff20354-a896-4ac1-9b5e-7eb417854b93 CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 832ca8dc-1a8e-4a8c-92a5-5d7795792f39 CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13430cf-0d0c-4e27-be9c-9ee0fdaf0c7a CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b5cb0d2-5a2e-4d1f-b146-16213484ead7 CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6cbe71-1129-45b8-950c-24914e4ce1fd CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acea1c62-845c-441b-b148-15d69c5b17e6 CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467fd3a6-bbaa-4c26-aa64-ee85ce02defb CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23ffb89f-9611-47f7-bf3f-6b36d9f51535 CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af1fdbae-863f-40c5-9f18-feb4ed735fb7 CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e21400c8-1672-47fe-a234-2091904f85cc CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8a6256-63bb-48f0-acd2-7af37c62f873 CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46574c19-d6b5-40ac-a423-e1d9e450b18e CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea23dc3f-2bd5-4fc6-ba78-0ea1b302900a CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33079ecd-5898-41d9-a9b7-75f56109bc54 CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b734cd-fed2-4b33-8433-55269f518d35 CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdb2a30d-fc03-4c65-b604-8d0668fcb10b CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a339469c-d779-4ab7-9510-263f0e4ed55c CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e30318f8-c570-4588-8137-edcb803ce468 CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e215169c-841b-414e-9e46-bbf81f063913 CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3292ef71-a87d-4cfb-b115-ca3344edaff8 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad89c59d-3102-4b03-b629-fb0f21171b3e CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fd36214-5861-4eab-928b-28e08cc29743 CLINVAR:9723 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0293b4a3-8bea-4523-923b-4b4ec10c4a2f CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8dd1448f-448e-44eb-bc00-ad8521d86dc0 CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf43cd6-fa42-490b-a406-d997745e60e9 CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b497835-90c0-4b05-bece-0dc2ef72c241 CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ddc4e9-a887-41ad-af25-eeab442b6c3b CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41a323b8-dd6b-48ee-bf2f-93f4c8fa45fb CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fbd03b-fa8b-446a-87bd-790f353556e8 CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e58c7ab-411a-474c-bdd8-845dc54d447b CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eec98f0-2c59-446b-a643-670da4e1d56f CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2cd5746-2341-4b16-bb45-ab19851e2082 CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beff301d-55ac-4a7a-b5be-cc03406e4910 CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96449ac6-e830-4d09-b2cb-b380d49c8a76 CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10ab0a2-1824-4cbf-b261-f427899848c7 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d388578c-29d6-481b-8cd1-3c9473b8a8ea CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e3a66c-62a4-4928-aeeb-0036be41946e CA9870171 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d8e7593-9ccd-4a0f-9de9-393a1409de22 CA9870171 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d259a692-0674-410b-a93b-619bcdf37e1e CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a7a0d87-6f42-48ff-a23e-522449710e9d CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9456547a-28c9-41fc-81ae-3b2636ca97e0 CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77ef4864-5d2c-4640-8e8a-7fddc232d12e CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc79659e-2f79-4846-a9bf-650473e44fa1 CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05fcc3c0-8980-4154-9027-7f0bb25ea145 CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28b9427-546c-492b-a7b8-2f8255f02b39 CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3fbba53-03c5-4a59-b801-03e4728771b7 CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4063e52-166c-4a55-a313-e3cad89149a1 CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f948571a-a20f-4973-9279-cf1fe499db81 CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f7a3fa-0790-4552-ba4d-1238f594b2d8 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 131549fd-df7a-4542-9376-691bb15aafbd CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a26ab42-5f72-4e01-8b8b-5cd215cb8ad6 CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c6b852e-13b9-4e8b-a33f-5789e3db4db7 CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507a68f0-4bcf-4e48-82ed-f50d033cc9ea CLINVAR:430844 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15d918ad-6175-4569-bd1f-8ce495ca2c4d CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen addf684b-833b-4ac1-88f7-cbfd6271c415 CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 028baa50-7160-45c7-b247-ca0fc753d0d2 CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19d09368-b04c-4c16-b0fc-e9534a968783 CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f12b94cf-4fb6-4327-9d9c-14c6693df083 CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6847d843-8e89-4175-812e-4fe6db2aa059 CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ea0f4e9-f5bc-43ac-91be-d9183ed45830 CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0f9d8d-e635-4631-b0a0-e3f09b084833 CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39a8bc35-9f09-44b7-9f2c-37c518745ac2 CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ded2c8-0046-4d28-a119-e68f22b3044f CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2c0abf2-45c0-4d0e-b29a-2b8f4994f5c7 CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414c5e7d-46e7-4f5c-8e6e-0574bf38a596 CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebd9c959-a3a0-4617-a159-59ddc0f954d4 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8042b966-b01a-42d2-bd45-7c552fae61da CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 328d815c-5ba8-4d58-93b0-ff2434ee4414 CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7cf8601-61ba-4207-a82c-8b9fb31bb2d9 CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 111a480e-759a-4d42-b216-064dac010aab CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624f1950-b891-4025-8648-9722d8497ebb CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b64fd66a-2f93-42fa-8425-602d3190d2eb CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48f65485-4329-4b83-b12e-764c98301eb1 CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eecc7eed-c4c4-4093-8f98-cfdacfa14ea2 CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633221ba-a04b-4e39-abfb-98e4c15647b2 CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9e48531-297b-48f0-87ff-bda30942e31c CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c746aa6-0d70-4673-8595-6faa72f448a8 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3ec1271-b354-4608-8fe5-54eff2f10469 CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a958c72-c26e-477b-8bad-399d96ddb96f CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24dbcfdd-f300-4702-b6cd-19a48f0d7ba1 CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8116a3bd-9cf2-47ed-bdbc-d2b3dba2fdf1 CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c568e4de-ffc9-4918-bbb6-079bf6bf2688 CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc28f2b8-7380-4c84-bb1b-e69b10611b8a CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87d1ae14-6981-44a4-8806-9be5c467177d CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31933ded-1345-4a8e-8ae3-cb9c11d1e9e4 CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37bf3173-1ea5-4fd4-8a07-2e3c14460dc7 CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449579f7-32a9-431b-8b08-25deea2e7688 CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43eb404b-0d4e-41d7-9984-faee9722fbb0 CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785f435e-6556-4cab-991f-47d62f71bfa6 CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44e89d84-bcfa-4ad2-8632-951b90ef8d96 CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f799efda-61c9-472d-92a7-7e51292558c0 CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dac78f4d-9b04-4890-ba09-27b8ae8014b7 CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f27466-1ed0-4676-b4b0-4ab55d92809b CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b944ca38-dddd-4245-b9af-b099ae26f9bc CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95fdf2e9-9658-476a-a2fa-378553d66ce5 CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb99cd9a-51d8-43d9-93df-d2084190e284 CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7962023-8ac6-485a-a7f1-535855efeb1a CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c300ea96-8414-47cf-b487-4300cfd3be54 CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28655643-19ee-4181-b6a9-6c644b9eb6cd CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1eb4736-39be-4c2d-be66-7506672e2a7a CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb115935-4adf-45ea-acb2-20db11d361b0 CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 169a4bd3-03a7-4113-be8a-5c8f2ea45acd CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31cb2391-fa4f-475c-a942-6c6b3d02ad40 CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b032671-24ca-46a3-9a1d-6d8c2f5684b4 CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8358d37c-c14a-4e0a-b4d2-bfd09b18128f CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22cd52d9-d3b2-4d02-95d6-1e70a98ccf07 CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2db1d03-07a0-4cdc-a7b0-e61a54e4b8ca CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 548041aa-8639-49c1-9d32-aba07f86399f CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19be153c-3243-4472-ab6f-4cb0ed5b8d10 CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1d507bd-8a09-46cc-b728-c090321a489b CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7939ffba-5c1e-4d57-b6d8-bbcc046b38e5 CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab19281f-cfed-400e-b0c3-4268f99f5fca CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbe094e-1003-4a8b-8bea-090ecff6455f CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed435df0-acd6-414f-be77-fae7d4810cd5 CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d43ae766-958a-4705-a24e-64ea4337fde1 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78eba245-1cf3-42b3-ad22-438170bc6eea CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f04aada-8ab0-4c31-a8e7-a36b5fc21936 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cd5cd52-5838-4253-9ccb-e6a7bbdde2a7 CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a2d3bc-660b-4f35-a096-ba4c57ad4856 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e5baf7a-43e9-4d0a-a1b7-39e22b57a58a CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47c676e-449b-444c-bdf7-03a43dd78a69 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 932accb7-5aba-4cd8-94cd-429883d335e5 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78bbd399-0045-477c-b93c-58aee50d8b76 CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f2ef559-6888-4e7b-9332-e2e9179b6e0a CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db48543-890b-43f6-a876-284b65394794 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e8b09df-1a1f-4e19-ace4-2cff7067790f CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2fe5d0-9acc-4ae4-8d16-58f221198b7e CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11213525-c373-4ff8-ac72-0e2ef4bf3f31 CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e39b56c-12e3-440d-92a8-2fc9c77868fd CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f4662df-fff1-4b74-b9ed-b1dc0e46dfb3 CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe7022b-99ac-4641-8ed8-e13a0ce2954b CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be899008-7d38-48cf-828e-eac4a5bf188b CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79536149-4ab9-4108-831a-b9c2dd1a5785 CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 075431bb-72e2-47ec-a53a-f90fdea1af19 CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d985e83f-f2b2-4886-b577-418712ae76b3 CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 963a6238-66db-4490-8309-2cf9d7071cf3 CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5acffa-85bb-4362-a342-f2f3aab4cb09 CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22d9e9e4-ad61-4a5d-b8da-b8f82c150e85 CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19294f35-f768-4c34-92fd-a0487fa27743 CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc5dd564-2cd4-42d6-95f3-5320b3d99de9 CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5892b3de-f5db-4fe9-9361-e7259a8a3c4c CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7973efb-ff1d-40d7-9698-df66a5708113 CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bb7d50-1cc6-4e57-89bb-20e9e69fec9a CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen beb4c0c1-40c2-483c-aeac-e540100f0e21 CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f7d49f-9f3e-4d13-b821-f373c9a8533a CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5dac22e-515e-4c67-b2a8-6765a8652d2b CLINVAR:973969 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f6e741-4941-44a5-82bc-22b9bab7894e CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42fc71c8-dd27-42cb-80a9-f2885270ae19 CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6969209-d2b2-4e1a-9871-bb78150fd240 CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5795851-2b09-4a1e-a605-df71dd4154c1 CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8768dd7-bb75-4fd4-9f41-330e5a718410 CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76dafec2-ec35-49e4-9a4e-7e5a43120c70 CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 698eb4d7-64ae-453c-a2c6-9135137336ab CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 895e72a1-cf8b-4cc7-a944-297db0c4b7ec CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa88cbaf-7792-4616-b925-42a1247e7170 CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8600c92e-f2bb-4c2c-825c-0162e77dba2b CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193174ed-45a7-468d-b1ca-6c1d83513684 CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 424d6861-e08a-4715-b95d-9e839e4c8cc5 CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1644765-1705-49a1-a779-371040d5c93f CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75ee583e-fa32-4ca5-aafb-d2d63bcab0b1 CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68e93293-09eb-40fb-97f5-75984c5af6e0 CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e865d7c-b4c1-4862-b961-72702f894333 CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aab1784-7432-4921-ab3f-c3f8c249ca4f CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5a2b921-2188-4c89-a3ec-728f10719cd3 CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 304308b9-526a-4f09-86bf-8d11710e8a6b CA340741708 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f72c06cf-7fd4-4405-bdcc-535a13c1df08 CA340741708 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4418c514-f455-48d7-b45a-05440648a73e CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54a86c29-1dba-4da6-bb25-492848694434 CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3576b2e1-2de1-4024-9ae5-49eef3c301ab CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c89a763-24a5-462b-a391-34bc170c9f30 CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ee213f-7ba2-48ed-ba86-3c3fae21b38c CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9677f582-a1e7-45ec-805a-b99ce5cef579 CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e22f1144-e27b-41de-996e-4ebb896b6cc2 CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b289e766-bdb8-4c64-9e70-f4baba8762db CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e51e1ef-2e0a-47ab-a722-fbbd0fae0273 CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94f60c2f-ac86-429f-bde3-a5d7710f058f CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f40e125-6ec2-42d6-94cf-48c25ee72190 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 326fd13a-e9f8-46ca-9dbe-1f389de2fa2a CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1481a277-0ff9-4c7b-96bf-3e4b76f74adb CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30795af2-d4d9-4d45-a5e9-b080524accdb CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa3b30c-4938-4faf-88d6-cbaa25fb1163 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4a3daec-a52a-4f05-b821-d0e00b2ddf77 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2829ab3-1022-4a78-ba0b-64df501540d9 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 388454ac-bcfe-46a3-a051-231b014ca18e CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8fdd8f-3f0d-460f-a2dc-75433c6ec3a9 CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63812ddb-bcb5-4d86-a110-7c942e60beb5 CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eab2269-7d15-42b3-abd0-2751ca449e0c CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 647a6b69-4e88-4193-bc7b-05146c28e611 CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b016f5-578a-487e-bd68-04b272bb0ad7 CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c45799a-8cca-41d5-98c1-7ac919ba83a9 CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c068f0b-7e35-469a-a6c1-9c460235d0cc CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8580ab26-c033-4138-b16c-bc7549565eeb CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62562ab9-fcff-41cf-9ad7-1e0f5fbed994 CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25727a3f-d78e-4630-8415-d12ff6bb6a17 CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a44722-8521-4ba7-a6d1-8c77a25fc835 CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c522f6a-a5a3-472d-a3db-f6a8e194d80d CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6422ab-c22b-4288-8a60-8305ba3f3160 CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccbb5eeb-b72d-4327-a1c6-4702376151f5 CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379bbd76-5e57-471c-9ee5-71bb08624667 CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82dffd16-101a-420f-ab30-5ad2f7f14e1f CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ab9438-0ea4-48b1-9af8-7506855200cb CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c4ad3dd-35d4-4d6f-88fe-257679eca5aa CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1306eab-ac81-40a9-83fc-2583b3794d4b CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a2303ec-6cf5-43bc-84cc-b9df2209a446 CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc01ce6-33d6-419b-b54d-32f195865a12 CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8a3c031-269d-4077-b49e-26b31fdb686e CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa0b852-880c-4442-b865-33a27844d040 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b6065b1-8fe6-4600-8edf-ab1f55f0b968 CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618fa0ad-9549-4378-9db3-b7ded5ee876e CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 609b84f0-306c-4d1c-9d5f-4037615d3c9a CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ea7714-ebd0-4a68-8993-502de8748863 CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57bd9bbb-2b5c-460d-a339-09cbf5ec0fa0 CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7e5540-22fd-47b6-bbff-ab34a2e93d05 CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8458cc39-10e7-4ea2-a1af-645ee98e2cfb CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37ba612-0183-4a61-b9a6-d710248ebbba CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d08087b9-0f6a-43fa-8e6d-c23de1be02b3 CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704c5b1e-0fe3-4962-81c4-86c8a080d7c7 CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc7b73ac-6578-43b6-90e8-2eb2f4b62325 CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf13c8e7-5439-48b3-8095-10aecbce3400 CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c82f026d-a185-46fb-bbad-8f17bf3da658 CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447c03a2-4754-4312-80e9-4d02f19fe3e1 CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 294cc20b-3d7b-4c55-9643-10537c20e946 CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946e174b-b2a9-4da2-af16-764df6215272 CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf30d03a-7f42-4238-9e38-f303d6614b69 CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530514c0-7d0b-480c-8818-f2d52dc4b6fb CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc0885c8-3539-4d05-999c-21ffe0a32579 CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8ab184-e545-48d6-98af-5061fa6c7720 CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82ff6151-babd-4347-ba70-c90895c8d66a CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f7a5b2-3f6d-4947-bbc3-78070b5b8ec0 CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f7c7ee2-5de8-432c-a544-a8d1096fbb03 CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f84215-d1af-4b21-8b04-cf69867f8b75 CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a602430e-e882-4289-9f9a-ce9d4fdefebe CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb05dac-38de-4211-80df-30b2c2ee8c74 CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78cf4bcd-19c6-4fcb-bf76-41e840e50d4f CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db02834a-d5c7-49b6-ac35-1034a5323d7c CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55beb5b2-a39d-498f-8e67-ec9cff5f7f31 CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd976473-fc3b-4054-bfe8-459dd00b9371 CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f564e4e5-ba99-4a47-a033-c170b36f5fc6 CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144eae64-2ce1-48f2-9d45-37add47be78b CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 998a2c4a-f4cd-4721-8b15-f6f33c1a3a75 CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96dd4064-a4e1-4d52-96de-cc414665afd6 CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80f44d1b-61fc-4839-b771-cdedd97d2fcf CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17cf9cb-5e36-44f5-acc8-c9cef28f7cfb CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 831c06f3-9963-4d72-a8fa-3ce71bd425ff CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4935893-fe53-49ac-8251-5b8126f7be11 CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 312dea08-45fa-4abf-897c-1f3d90630ff4 CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d39a37-5464-42f1-a877-8459da15f266 CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d84ebe08-6300-4bc5-9486-510c473e04e2 CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7ebc60-3779-435d-9190-bd227cee3340 CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d15a1470-5e4e-4552-9962-e93de5f848a8 CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80745a2-b677-4bcb-b287-8f031ec6e0df CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a6aca21-ec49-4b94-9334-d907397d5a8a CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b649e105-bdd0-4a16-b4ed-bf2b9d4c8c95 CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e9a6801-5434-4b12-aa5e-b991d9bbe3df CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 257acf9c-f6bf-4f49-b0b9-7d983abce5c2 CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60b8b002-c005-4ecd-aab2-b724453a8c5a CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea25f20-79e1-4b2b-b92a-7b469477e9ac CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93ee9c93-c143-44f6-a994-4d4d7279ef23 CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d772aefb-0196-4e7c-9ee3-ea3eb72363c1 CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9ef6936-12f4-4086-9b42-936be2a5691a CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b436ca-8da2-4adf-9571-98c6b67cda9d CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecbb9a3b-48dc-4090-a2f1-28cf24a861f5 CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7452f4-0a21-409b-9831-502f96b9c20f CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c88202c7-7d77-49c3-81cf-72007e2e406f CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99be98a-82a5-40cf-a680-b0d2de0e43b1 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba86e748-c703-4ae2-97c7-a4dac5975d14 CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf29abc-1f95-4d51-b798-e65a38f17218 CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fee8a49-f71e-4a2e-af29-8d39aac25693 CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba0c3a8-a821-434f-bcf5-5b4cd5785b40 CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7649d92b-ce52-4a43-afdb-6f2a5d20cac7 CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c52926-9406-448e-a49d-99102619b61d CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c041b2ee-879d-4510-a111-3f2f5377da4a CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 360ba4bb-962f-48fb-be40-4b8f3cd1d1a3 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85a1165b-ac88-4ef2-80af-c26ce8aaa94a CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94158a9e-a85b-4083-9c48-b2811db3aead CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a519f179-8b5d-4a89-b6c8-60ce657f1c71 CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e536d4e4-4a44-43df-8722-afad28b493e8 CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4223d962-9219-4332-a115-bc5103fa5cfa CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 731cf97a-2803-409e-a03a-0f90dc98c9c5 CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 947cc4e2-fe77-4259-9047-f183a1cf2428 CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b28ac7-0a6b-4b29-8a19-9147ba349e0f CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7a782c4-62d1-40ad-bfa1-fe9f6c507e70 CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a67f30-4c20-4f55-8c6b-ffd09cc007b1 CA367398657 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fafa941a-9932-4f60-ba71-2a657cbfd3a3 CA367398657 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68408a5c-3182-4ebe-af44-0f4813b95ae1 CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 147fd046-03be-48f4-9d44-eb38804c066c CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1282d2e-64c1-4297-a6d1-31f18c001943 CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5093fb20-beb5-4a98-b856-b4ff0833076b CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469e836e-cdce-4b5a-ba77-9b761f2436b6 CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e329f86-750c-41ae-af3b-ae3de72433a0 CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95db3811-264f-48ae-b507-02cb26ee5260 CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e27d3218-9076-4c6e-904c-d50b898317d2 CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf526104-6887-47b5-bc0b-ccf6612b5503 CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e207402-41bd-47f1-9916-620569d44b44 CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a039de5-8495-403a-805b-cafd94559040 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 128332c9-7bc0-4066-955d-f326adf0b0e8 CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6d1163-b83f-40fd-8be6-93d8e6098507 CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92d01cff-40d6-409a-b004-b710e788060c CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f15d158-cc4a-4133-9e4c-e72bd275b675 CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b39638d1-f3e8-43e8-9ced-47783f8efba3 CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a2a861-3e1e-4ae7-a4b5-f4a6cde6bbe3 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18d101fe-b451-4170-b377-eb1336a26289 CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd52409a-3f2a-46fb-b2f8-d06b378d8039 CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33d9bddd-5363-438d-8659-826b8de60a15 CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3bb6c4-48f8-47b2-a947-f95a148d71e5 CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f673f76-a3ec-42f6-862c-63cf3ff0184b CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ec1824-1fe4-4137-baaa-f355356bedcf CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 724d6d11-eec7-48ea-b210-e4ee731e12ad CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0502eeec-1f16-4ee4-acfe-5e6c55f3bd79 CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ac97ab1-ce88-4b30-98f0-81ef1137bd32 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59fbe532-3bc6-4ac0-8f65-c25e00642f14 CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4594be6-8bf1-4b18-adab-e64df7436d36 CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81954e22-5a0d-426c-b8b9-732e2d392bd2 CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfc0b044-d589-45de-80a2-be6994dbc734 CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e0905f-0d89-43c3-9d1a-e8567f8eb24d CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa66d42d-dcb7-49ae-b74a-bdf878ccd168 CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9462d728-a03a-41df-824a-e801c6db966f CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84b79c9a-4b3e-4882-8850-6bbdf27b62aa CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda27f1a-876b-43ef-8aa6-24511b31a591 CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d3202ef-26fb-430f-9cf6-2a723e7c92fb CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d068cae0-fc83-4519-8806-9ef27c6f214f CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb30f277-d106-4eeb-a074-902e96b98943 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 741bd3b7-96ac-45dd-b5ff-646a8e007e5e CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e771d1ae-3c07-49ca-bc28-6257b40160e4 CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f41f50-508b-4844-8c80-cd67d9a1bd9a CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eef617ab-232d-4039-bc3c-610a63e48583 CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3abf0bd9-a326-4363-a020-e66051420758 CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc9a0004-26aa-4d56-ac5b-941829975f5f CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efab5daf-1b5b-4346-bd1d-05cb6728e3f5 CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ac3e999-48ec-4155-b968-24d107735c22 CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6f8fa2-a0ca-417c-831c-cedef3f9a194 CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9979ee6a-cd94-44cc-bd9e-8c6f278738a0 CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a74c787-508a-441d-9f29-972185e4401b CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 133d919a-879c-4cb8-9783-4dc5ccb3b6f4 CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a96776f-2be6-4b80-8d10-8a08e945e375 CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d6c6480-d1ce-4329-8483-096ae5ac68e1 CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a63fb65-d778-4100-abd3-4c5a56b587f6 CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d60b45e-edac-4f24-983c-96461d8636f7 CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bfc350-e722-464d-8038-d81d1292f22e CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab6e09f9-e8f5-44f6-a969-ba96f2f6b3ef CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d8351ab-887e-4b9f-9ff5-b767b4c5f793 CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db420ea4-2908-408d-a3d6-ee5745ef09bf CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546e671a-13a0-4ae0-92be-89704bb1ed65 CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ec168f7-a019-4c65-83e8-1f55d490e343 CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3a687e-ae45-4880-9d97-3ffc1e785ab1 CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91255e0d-587b-49eb-9325-de8864ca514a CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c29b95-bd40-43fc-89b4-d97ec900187b CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 641b1a6c-e1de-41b1-a717-53b6efaaf8ea CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c562276c-8aa6-44b1-b3d1-d88ef25435d6 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26338a34-5d4b-447c-aeef-a2d8aa9c7cd4 CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3392f082-d2ea-4e7a-95e4-7de2d0a9c919 CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a603a9bb-553a-4676-813a-3095ada8a40a CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5732972d-3e25-48e4-966a-29b15302b17a CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3f0d4d2-cefa-4556-bb11-16fad4b99506 CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2288939c-96d3-41d1-9ef0-0daac2116ceb CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f949372f-f842-40fa-bd4e-8012f41ad137 CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0addf831-67ef-419b-8c0f-2305c1069e9b CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25aab48e-d642-4213-89fa-07fe39b93a93 CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0f64f0-34f4-48e0-8cd5-420150f8b62f CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9868af49-1157-4a7a-b276-c456a0675f72 CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2645ccff-7c20-41de-bc56-bc785d6b007c CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f61fd367-f603-4794-a4da-3c53e2c1b0c6 CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feea9023-9850-4cea-9ad9-56b928c2f4d0 CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45f86cfa-e463-4869-b9a1-269fa39a12fc CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0204e3f4-6f4d-466b-8052-7a90bd4a5803 CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22456d15-c9bd-4509-aee0-c6ba0cb3a3ab CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e43049-611a-43d7-a558-ca0cf1d649af CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2f19260-4c1d-4201-abcd-be002c98c406 CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a086fc-fbb2-4a72-a75f-7b3ada2edcc9 CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6188da87-1eb4-438e-9992-ab9e1779d494 CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01cd48c6-1746-4d1a-971b-80972d40eb4a CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 814fea91-cc94-46ab-96ad-7fb210cb44af CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd3ca7f-03fd-481a-967b-ae540af90291 CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee6d0aae-2607-403b-935a-f546e260297a CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ce328b-c921-468a-889f-ee34c8f0ca81 CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 523f7b33-ff37-4ac7-9373-cd5ee180c146 CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a811b94-1fdf-41c2-beba-fa41b0f3782f CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7024c979-34b6-43e1-a39b-a2b5a46ce042 CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02eadb18-6dd3-428a-aad4-df80f8c6b89a CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4248bda6-8407-4ffd-b429-dbbcd492a621 CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73eeb26-f7c0-446f-ba5d-ebd26891c0a4 CLINVAR:425731 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb3ccc2e-7f1e-4437-ac40-9e8937b90fd2 CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffdb4b81-628d-4556-a93d-b2d1029b03a7 CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c019d7b7-b3ae-476f-9eae-a3f4bffd5ec1 CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c465ba-bfcb-4228-9ec6-407437a8bb19 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18db0414-102e-4276-83cb-68117a3d84e8 CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bdb9962-1c0f-4b0f-8807-9a2f20d8425e CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4608d2ba-42bd-4c6c-a632-22fa8e0c8f37 CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384ac75a-7633-4a67-a4d8-cc6d548df718 CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d988753e-a162-4bfb-94b3-32e6e4a0993a CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488651bc-ad12-4cbf-99d2-d8f93963955b CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1de37cb-9fb3-480a-a4c5-cb3011f7fc1b CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f868e41-3a3f-40f5-b99c-d6fbd0c6c502 CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c13a9fe0-f0af-4e21-ad8d-a8f0cca12cbb CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e674302d-0b28-4884-8abc-285a3954357f CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6300b9f0-d22b-4939-b686-0804b2bbe92c CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb1af00-2caa-4571-a7ab-dcaa18f0d7ae CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e53e293d-d8d1-48de-814b-6627f3cf5189 CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c77ae8-3254-481a-bbc7-76dac6e5a80f CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59587340-cae3-4182-bc61-616429fca4b0 CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc8cd9e-3dc8-465f-8f90-167d46827310 CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7952fa2a-0213-458b-be78-0e448ed5fc3a CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf2586d-8538-4579-a368-21fe7fa2711c CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0781cee-1dc5-4483-b105-5767919f3375 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a62bc3a-2dc3-491c-8072-e728530ea317 CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd7ed9d7-52c2-4ab7-a7ce-c08024965c7b CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3b1bfd-e63e-449d-b8e9-65bfe5d41730 CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f35375c7-eec7-4b22-bd5c-a6f11e0ab283 CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f13ac55-09d1-4b56-a620-2e8758c68246 CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae212da5-f1cf-46f3-b381-d21092a5d6ab CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 399f017a-5c9a-4100-b8a5-32da01d6f869 CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c1762d3-7f66-40f2-b7b8-907986a99a50 CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3027a4f0-61c6-4377-8c2f-d7cdb43a29d5 CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33adeaf2-df39-4bdb-b499-50968149bcf6 CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ea36e8-db2e-420d-a2be-45baed2309db CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f62fcf04-0ab9-4e2c-9ed5-e97057d73879 CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20af2366-fdf2-46ad-9010-1feb94286993 CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 291a6e47-d36a-4bcc-8bbb-5f217fad7d4d CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8637da09-a52d-4b27-80fd-d0a1d430fa7a CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5008ad31-15ad-4848-9945-d7e7d16cc4dd CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a73d8a-52ea-4801-9159-3145f0077579 CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3144dc98-3a40-43b0-b74b-fa5bf449b4fd CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e19365d-47db-4eab-b958-2b67a5fc1f89 CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e8fd85a-c5bb-4455-8c41-d51389cc9c97 CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783244a5-a1a0-4992-bb35-6ec2d37794b0 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cabc8125-8bba-432d-a609-ac960699e6e0 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23dbb553-35c1-43b9-b3b1-ec8b1cb278a7 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8aaddcdd-2d3a-4f1d-a3e5-3a5158ec50e7 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21055b26-9b01-4236-a70e-b11e4e716430 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5afdd677-437e-468a-9141-7604cac3c558 CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5040b41f-1c53-48c3-b518-097b7edb7b89 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a70a8afa-18c4-486e-ae50-0c646ad81d99 CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed76bb29-71df-43c8-a840-cd378e9665fc CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7d4ab01-4a29-43be-ae05-b6cd1182139a CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2977d4-b807-402b-85ae-d6d0c3f8afee CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad5c1677-0e7c-40ab-80e4-1684dfc2fde1 CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53eba02c-2e6b-4833-b659-ec782f95db2f CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eac1b838-44f8-4c6a-bd9d-0dfe6a2f46d0 CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc64ca7b-4b35-42d8-a0b0-77d119b80f1f CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e3d33de-85aa-4247-8cc6-a459d1ad988d CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9bcc2f-b27d-4ee1-a1a8-fb27d7d04978 CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e62c89dc-b6b1-44be-9c94-f53a1e7b413d CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9822f954-63e3-4cc9-a992-1885cb872c67 CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22810486-bab7-4ea6-86bb-5869aafe046c CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133a7bbd-bd49-4e9a-8e18-d0a28325f2c5 CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 576b76be-d364-4eb6-b78e-90752ee2040c CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0a41f0-b151-40f4-8d6a-07e8341bcc3f CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 351da1c4-4653-48a8-80a3-1391de2c7f5a CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0a2ffb-ee52-46f8-bf27-89c149834f84 CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ead0428-20c3-4f5d-a728-19003c2b4b5d CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96dce7de-f1b0-4a99-bc42-6a0f3c9bf3e9 CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 793edaeb-9ed1-4c00-bf90-2f5f461b4e8c CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee5f7cb-9942-40e7-a170-09a6c399e1d0 CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1904cd38-8388-4460-b3d3-7941e2f78bb1 CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a2eada4-8296-4220-b281-ae50014a87be CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 620cd554-a5b4-4b02-98d6-c5196249646b CLINVAR:870596 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c11476b-0fa3-4ff5-88e9-4dbf0c4f9883 CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56406209-1b78-4d63-95a1-6284ab197fa6 CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259ca706-3a89-43f6-9f45-c79371b9a7b4 CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9801b809-017e-46a5-8472-684f480a3d65 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3efdc93d-86a3-4408-a1b6-7905c347eacc CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fbd2cc2-1fe9-449b-9f39-8cfcb089671b CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d16b64-fe1b-4be7-81f1-0733eaae494b CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a56ffed-14f5-442d-bdf5-2cb84f6f6db5 CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d97adf-597e-414c-8ec5-68f3b0575a9f CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12fc5419-9595-428b-ae2c-4ad6e45026f2 CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5863059f-f300-4c78-84f1-151ed5f6c037 CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cff944db-5f28-42d4-abad-a4cd4e2ef9bd CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1398f16e-7937-48b3-8425-1b72a705fd26 CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75143147-c185-4a4c-8e95-f50c39dca867 CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a2c000-321c-4df3-bf07-8001b8a6735b CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2502bd2-730e-48e4-8e6b-d4b9b6670b16 CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e4d19b-84cd-4964-bc92-8b34acbfe95f CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77ef800b-6dc3-4a70-82b2-f84b577e9035 CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9930863b-9615-4995-aef1-b14ecd9b6eae CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa1364db-1e4c-4582-adc8-3d0f14a9a767 CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed4adee-fdff-4366-8341-bc70926948a7 CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f70f6e9-a2a2-446b-b0b3-bca224191dff CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9739fe-37b8-456a-859d-23dd934baecd CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19a62a09-79af-4027-8dad-04a193171ac4 CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865c1f3d-af11-4dd8-a09d-1f767d29f059 CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc10ea5e-d067-4a47-90e2-c189c4331ba8 CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9cf8ca-4bff-4386-b17a-aeb735bc8985 CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d5e06db-d17d-48eb-9ffd-387b2dfcf4b7 CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b37fe7-916f-4294-8470-913f07fe08a0 CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee1a1255-38b5-400e-9554-134439554cb5 CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67dd2108-482c-4964-bb78-36ec083ecf80 CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ab9c89c-2ee7-46f1-94c2-5c27eaff4108 CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb6ff76-0fb0-48fc-a88d-dfa216aad0b2 CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82384194-7498-4dc9-b588-bbc376085921 CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9312b52-0af9-4a13-926d-5bf1af77def0 CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c35c778-3390-40cb-b38c-d785c69ffbb8 CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab1d92f-595b-42c9-8d1b-a584db862991 CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 999aece4-1422-462c-9aaa-1b5b224ed083 CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a70d24-d356-482d-b8c7-4d65dd7f45e9 CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cb689ab-5279-42d2-8445-26305ee7e866 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efc8743-9cee-4109-ae4c-180ca6337ba0 CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff3fba06-e983-4c17-8090-d79061412c28 CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78444aef-5b72-4ec0-aafb-60ed6b10d7cb CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb8cfb8e-e5ce-43b8-a9d9-109389a20532 CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29385c12-4200-4e60-add4-5cd3cf5f22ae CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce931b4f-b2e8-43d8-bccc-0be8d2510b88 CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c5a3f7-ac0c-453a-929b-6acdc2431bd1 CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de5e7e76-6d03-4889-9941-c75c44edaf3c CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f1bf1a-21b0-4fc4-a217-bff05a2bfdfd CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e536f14-fbcc-4115-b58e-540694fac1e7 CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c143893-1e9b-4dc5-8744-990a36931f38 CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d3a6bff-1cb3-441d-8ea8-3e4b36067eb2 CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea45e4f-207f-4112-91cf-14fcd2e7b5be CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b64ffb3-18a0-4a0d-a33b-58c1090e454c CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73dd2b08-8abc-4fd1-92e9-0558f2002d81 CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a94170fa-6109-44d5-a006-f0ddb9f4b9c8 CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b27edeb-f14e-4d74-9389-3e233cbde1af CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f21edb6-3a1f-4c9e-a7c1-b5918ef9b6ac CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9538dd82-ccda-4897-b299-a0416d117fe0 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0e8cda1-d794-466d-b9b7-280e21493665 CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3f367b-07bb-4708-84a2-b6215ce33be8 CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c866f3c-02c0-46b4-8009-a157aa2533b6 CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a58977-f36b-4868-8ac4-790eb9e6d68b CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 640b8c72-20bb-4ede-8e41-80851d15e3e9 CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1acfa98b-9839-42f4-92e2-4dcd2aca33df CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0186fec4-dd27-46b8-a307-774327105ccd CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f6b63a-c3c9-40cc-804a-fb93171fce4f CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5014a333-3723-43cc-8a16-d5babc86b9b3 CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56c7814-521e-4305-bb48-df3cd71a9999 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 334e10f3-920e-4bf9-bd68-e703d9761f75 CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6649fc0d-cadf-42f3-8428-6576eb24e456 CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e785ece-765c-416a-955f-fbe8e6a22c2e CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765d67f3-f701-4841-a451-a0e8b07059b9 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 407dd461-5e6f-48e0-88db-6d0e6d62a1b3 CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a53979-3be7-4752-bd80-9ff64fcbe371 CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad25ddca-147c-4410-8bfb-51dc03e905b0 CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fddece1b-c93d-41d9-95dc-1be49caabf75 CA4239423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de7b147c-2497-4cdc-b47c-a641a2f25b90 CA4239423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6624396-3acf-4ac8-ba16-1ff2ff81bad7 CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86b9e32a-718d-45fb-a841-81e13881c6f7 CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1a4686-7312-4a11-8435-c5cbd97c8d4c CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd7ce213-c36d-4535-85c7-2e343908d46d CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e020c31e-be5f-46be-ab6f-be7e63adcb50 CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23246ace-5ac6-410c-835a-ae7d68a59272 CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55f84ca-a274-4472-9300-24c7aa14e4fe CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3abcb60-31fa-46cc-9845-741c8717564b CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 754cfdb1-ad55-4299-8fc9-c966a58e9098 CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c0480ef-dbed-4a7b-8b2a-435dbf1cddaa CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0793036b-b4a4-46ea-8108-c2b1f5081024 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a2910ef-c555-426a-b30d-b7662abedfa2 CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f16091-e615-4090-8f91-ab084ff6ab34 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e5d9667-f8d8-4c49-ae5e-88988575f102 CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f05a1ad-c4bc-4f54-b5f4-d0520a4c7308 CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cb11caf-090e-442d-9574-c7112408e3c0 CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c1225e-bf48-4e3d-8143-489388a6e090 CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 714fb547-083a-46f4-8fe2-4d597dff73c1 CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beba9c02-2762-4b1b-876a-a0cb556c8175 CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3a07abe-2215-477b-a216-53e977782f07 CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8138eb-5c0e-4b4d-b5a6-a6475fed002e CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c92c20b-2156-4c3c-b7f0-86d77b91433a CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9cbb3b4-a2d5-4b4d-992f-34080aa42b76 CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a80cca84-cb65-4663-9a16-51abd0223de7 CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8374e3-077b-4bba-a388-1c3612199589 CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8147eeb9-1d66-4a85-8aa3-503aef7d796d CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e02be3c-12fe-4c19-9387-ea3c71306f4f CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen daeaf058-6e35-4f20-98b0-aac085077598 CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44cf03e4-f758-4b4e-a94a-c71026a0b8cc CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e939d64-9954-49d3-9dfc-431b8962200e CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0726dc6-b091-4374-a2e5-7a6cd90c7911 CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44910e92-3b99-4517-ad23-161df30d2c5d CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d527262f-cac1-4ee4-965c-ecc853348a98 CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bd30b9b-d77c-4418-9d01-c4b19d1476fe CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f53233b-e377-4ed3-a440-9444adbc598f CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49615323-e1a9-495b-9f57-8fab7e2cae1b CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a3a0235-7720-4486-bdf5-448563a498ae CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32c23074-2686-40c2-83ad-8143a5bd023a CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ede4d7-5797-4858-ac9f-8eabfb1b6c42 CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b47f0f7a-32e5-43a1-965e-a581e7d358fa CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab55e4d1-d2fa-453a-9808-05c38f7ec2b4 CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77e5d342-2a85-4ff3-83f1-4b8d4dfdf0b7 CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38f5e0c-61d1-459c-b4b0-21627eaa61ff CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a6afdd3-3faa-47c6-9702-785d9a154ab7 CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0204bebb-edc1-4670-a61b-f613e8e9556c CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 095f46da-f009-4bb6-ae40-0abc68d9c099 CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a088b18-c83f-4481-ad0c-998624f5ba54 CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f47c1bc3-415c-4fbe-a91b-3cdbcd36dcf6 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe715b68-bb40-476f-a639-8d96aebcdbf5 CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8ef028b-4357-42d8-a722-4719208bd8fc CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca9cc79-cbd0-4afe-baaf-1217799314bf CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41ff8b6e-10db-48cf-a0a1-0552b56e975d CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ccb536a-4c1a-48c6-9b44-ed5b1e56bd63 CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfa72509-c2be-41f7-9ea7-b37465001294 CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f995457-f637-4a80-93b3-5fa7a93e8dad CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bcbd5ae7-fa02-4abb-ab91-834dd5ed937b CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb44ae3c-2641-4938-a100-b01f9e7c4b52 CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab7f3cce-5965-4203-85fc-ae1843b90ecd CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0bf332-507e-46a6-8142-208e2bf81753 CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2460464-479a-4e42-a8a5-8a9129e13b5a CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318d0481-5919-475d-a13e-8337b3f86247 CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9b5d969-b4e8-4017-86de-ff04474db559 CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b91908-c389-4be1-aa78-4b59e6e3a651 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fc421fc-fa7d-4557-9bb5-b1bbe9ff6876 CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4894fe30-ada7-44de-b45b-9eddd0d37b30 CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b2b96d9-b8d0-4424-8a25-90c8ac18c27c CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5418d4b5-a4a8-4948-95c9-83c9ecf12e25 CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52a6e7cc-484f-4b2d-afb1-11497bbf9632 CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fcc0cf8-e3ea-459f-9177-c96f944934f1 CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aba97c28-ba5f-4db5-a0f9-b79f81ada0c2 CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d38f07-9f18-4a78-be85-49f3be55824b CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b18e0ae-def6-41a6-afef-8e3d9e2a39a2 CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0362c68-69a0-47d3-ae47-59c50db46db8 CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f239fbdc-51e7-44b9-bff3-542a96f95795 CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691ebd3a-a03a-4467-a386-a20cad8dfd5d CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4384f06-7a98-4588-9d7c-e281b7a86d0b CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 145a2530-adee-4dc3-90c1-d16afc6a3704 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9458b9d-f6f9-4fb3-8334-34d5a86afcd0 CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0699b84-b22a-481b-9dfe-ecc046eb9b17 CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41b0eedd-92e8-4e56-b221-bfec7ac13d42 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef32021a-e9da-4f4c-9e11-c2886f0db3b5 CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47638f6f-7924-44cf-8643-39d29df6db95 CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810a370f-cc89-4e70-8d25-076b7742d513 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dea45ef9-4a29-4542-97bb-8da8013a1783 CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fba106c-59f6-4677-81c2-de01ca64e84a CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c2398a3-d8b0-46fc-b222-a9d858c3c633 CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3aae58-b307-4cc9-ad49-cbb4f7aa5453 CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1314f262-fab2-48a1-aafe-cafc2e5870f6 CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba5481a-cc8c-418c-9511-fcd92d584849 CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c28fea44-a4b4-49d6-bf19-cf16eabfbf3e CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078e69fb-f36c-4e2e-8581-22ec6f55d946 CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcc938cd-d8e9-4519-85c9-38ceee1f1340 CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96254c2c-702f-4459-b7d1-fee87b571f88 CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee413936-4f0d-461d-9f88-05182f1e015a CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e32c9b-9e92-41c4-8667-3342a5d18e71 CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2788f7b-d187-4a0b-920d-1dba5fcb20a9 CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cb0f5e-ad23-494c-b260-bd044fa12c21 CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cd14635-aefc-4784-8094-06ac5f260745 CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adec862f-15c8-4bd2-a3d4-88f821a10db4 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 704b3ee5-e7e9-42b1-9df0-50c82d876c4b CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7df2fa-21d2-444a-93e9-083daee37786 CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc252154-b2d1-4952-b52b-68d0de760327 CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a833ec-1d33-4a33-8ec5-9fa3dd2ba755 CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b9cf0a2-9cd7-4679-8bf9-1e36ef4e6d2d CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d138acc2-fc5d-4d22-8891-2352177649a5 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6270adb-d3cf-4149-952a-017f85010b2e CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e535ff-5b07-45cd-9ed2-f3e56f02b315 CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8aef5162-1f13-4101-ba4e-9eecc27143f5 CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34760df4-b4d9-485f-8096-f84e3df5420c CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 360a6926-a207-4287-811f-5a21d0e97067 CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eef89bd-765c-46c6-9ed0-0d2bdb539e1f CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4130086e-2178-4afb-b01e-08dedab01490 CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6427b26-9e4f-4b97-9c5a-adda0182e5fc CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 719bbcbb-ebbc-489b-a8fa-e6fa02580ca6 CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28fae0cb-42c8-4856-a268-c3af11b53385 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c32e1362-21bc-436b-92f1-4b68df78a791 CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c8c7b3-e43c-492b-b9b8-32fda6193d81 CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 942cf9da-0852-4fab-918e-cbde6210485f CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e33a2bb-0bab-4907-af1e-79b767dd5f5a CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3284aa52-b286-48ef-afb7-dcaaf8b1e0ea CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d40095-7afc-4870-ab9b-25338447bdad CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aedac9f3-69d6-405f-a83f-56e23f3691b3 CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ee48191-20ef-4ea4-8bdd-1eb298e22bd7 CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1083731-0c97-4b81-be0e-f94841e680c9 CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aab32dc-cd0d-4884-81bd-68bf09dc475b CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9881cb8e-4a57-4edb-ad64-cce4351e709a CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9720646-867f-4118-8c2b-e56e5fa89485 CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08f769db-7c8e-4cee-a35b-0e99bb8652f2 CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e0506f-683b-4d93-a77c-73773ff5fa26 CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b009f632-c1be-4ae3-b94f-db9599f05cf5 CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497f12a5-24b2-41f7-9246-d6293b1cb42d CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1758c684-24a2-488a-8177-f9d022ce42af CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7efe86d-406f-461d-a2a8-ed7c5d8529d0 CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a263c206-b90f-4290-a88e-a883e2856146 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8dbf22d-dc73-4f26-81e4-799c03c21fc9 CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87a18585-9c86-4dc3-a0e3-a56b8e6a0dc6 CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0ebd13-4ff0-4751-878a-5f0d7a324567 CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd5c5da4-ed80-47df-aceb-676a4cf41cdc CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b133ecae-44bf-48e2-b553-d34f3920c92d CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9263e57-be26-4689-948d-33fcc6a3b24d CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f6826d4-f2c2-4fe8-9ebd-7d6dc36460e1 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c86c0202-7d21-4943-92c8-73258b132241 CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543fbc6f-07aa-44f9-bcea-a8681df390ee CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d36fd4f1-7ee2-4155-8682-5484a65d3a18 CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6018c4-b92b-4c1c-87b8-8c1670bea3a7 CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4aaea470-0354-4acf-9ce9-e0c10c75b6d6 CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff59be2-14d5-4a07-aa58-706e53e7d726 CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4dfc4c51-684e-43c7-8a2f-2f84bd41060b CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45339f42-a40b-4e4c-9375-382fe025d381 CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55517a0c-7350-4b32-82a1-04534956f38c CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1d078c-7f89-4bdc-834b-a362a835aec7 CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d91760a-3c27-4f2a-809a-a2c511343b43 CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1980038a-7bdb-4b12-851d-10b571625442 CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2bb8721-21ac-4d91-a9ae-3fa12f30924e CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949fd3ae-6172-4c63-857f-8ddc81fa5845 CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41165f0e-f2a6-4b00-afd0-2a287b12e6d3 CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b9c270-a0c7-4255-b476-e53a574ba993 CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d0a77fe-f8ae-4e8d-ab8a-0b6da24b2c99 CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dedb602e-fc4a-49b5-8ee5-a90b49604c90 CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 321dea16-c45e-4f60-bff6-ea12b545270f CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09904e0-f334-4da7-a215-8efc8fddb75c CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b27dc426-92b6-4369-9e7d-f006098298a9 CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5f159d-bc68-446e-9127-5cff981ee886 CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6502a3fa-9482-4011-a06e-c73892b78d68 CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c078d135-e74a-489f-8a6e-99fc04776b0e CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75842c31-906c-4ec7-bbc2-7dc20950ced8 CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2ad242-7a4d-42d3-92c1-e5ed69fdb95a CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3463e2e-b107-41c1-a6ba-6146a10d598e CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb4b6a1-24d1-4e90-8745-62c753d619d2 CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f4f931e-d0a0-4c6a-a786-c7bcb18f3aaf CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89e26a3-1fc6-49ca-ba97-9eef9f1dceca CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b48698c2-3c9b-43e3-91c2-96a0ba418baa CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77224c95-06b4-40be-b197-5e32c62334e2 CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 650a7e37-44d6-4434-a3ac-6ba93a9d2401 CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ff353b-f1be-4f5c-8067-ef1149d1da53 CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41fa833d-a638-4662-a854-f83ef01824cb CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 036abd68-6337-4a3e-bc0b-ffe7193de34f CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b515473e-45a9-44bb-873b-b94dbf5631e5 CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c49b277-b206-41bc-a3fc-5cf324d458b5 CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4c1db6d-f8ea-46fe-89d0-7c7c69d6b00b CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7758f3-c9ba-41d8-b69a-0a77b6581f7c CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1b60d47-177d-413c-9f5f-f216ec972af1 CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0238939d-78f1-46fe-a138-6b07f36fdaa7 CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3a570f5-4aea-4268-911a-caf1a5358643 CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52532829-343c-4a38-ad1a-adb89e2ecf5b CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7cb66e3-d63f-4ff3-b847-37c591cff41b CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab0c8d2-9b13-4d05-b7d7-eb2d53e70b61 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6118d8b-914a-4462-a5d8-d18df2f02bf2 CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d156b406-e464-4425-9371-393caf4ce95d CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b159f04c-79ec-4aaf-82c6-65b3d6e5eb89 CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3fac7f-4274-437f-8da3-75ae9928e582 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e326627e-8909-4f74-b8b8-5ffc11caecc2 CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b74626-e38e-4c60-a43b-7696a92c07dc CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c57c32f-d2aa-4e3c-85d6-46906ae6f448 CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e0a53a-c7d5-4e56-b781-326f9f24919f CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e31cb036-6443-4c9d-b153-d2ef20510003 CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c03fd23-8c80-4ec3-a195-e7eec1c7a3ef CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d5dc65a-d224-4c57-b605-19da043a1edf CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c60016-9e56-40b4-ab3b-0a3f90996fab CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0885aa9-0f8c-46b0-95ff-8e5a608004f6 CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e45518f-e475-4764-a622-152b4d35cad4 CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93ccfd36-d561-479d-9525-8fe8f3618113 CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ab5425-eac6-4a43-ae0a-55829d7406ca CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ebfbfc5-1150-4123-8a40-1c56f4bfda94 CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fdf03e8-9bed-4a16-9223-0731b3203331 CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83aa6b8a-3975-416b-bdcd-3637e6527677 CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9766cd1a-4e34-41af-8ba4-dca72633f40e CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f8bbee5-9a1c-4090-82a9-d9ef590907ed CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834edeb9-769f-4e43-af6f-24189141267f CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 271501e5-92f7-4747-9e79-39ecc7655112 CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff93410-009f-482f-91de-c28075ada2b4 CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a852eb5e-976d-4ba8-b832-7f8b088de9fb CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3441f06-1322-456d-a77c-8f0e190c3c70 CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87af4894-090e-4b53-bba2-0457fceb506e CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b790b0-7b47-415d-9062-6bab320a50df CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a064471-b4f0-4997-b871-62a1fdeb5c1e CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ff5f72-bf76-483d-b4d5-aaf1f92281f4 CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 727c9287-04a3-40ea-98d1-8d9e35a9bff9 CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc13745d-aed2-4ae8-b898-5664ecca8903 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a35a8a63-102b-4c29-baf9-ad6ca38448b1 CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f18e8c-5b2b-49b4-8e16-c977812cbc23 CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75328769-40fa-4308-bc54-cf2f8c21027b CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d3aba86-79a5-4981-8fc9-d1644e5d25c1 CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87870543-3cb5-4cc6-979f-5b5afacfe2e1 CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee0b130-89ad-4998-add7-90a1ad2b9f97 CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19a5408a-b837-48ad-af94-b7a8b54bb792 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0ab667-8116-472b-945a-f5a83770d288 CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5052f34-97ae-49da-a759-f9f4f041530e CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8f9ad6-1ebc-413d-bda4-b451e76164b6 CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a1e968d-8dfa-46e8-96f5-a458cfdd446c CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 443ccc73-2f2e-446d-acb7-80d5fea7a79a CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a2b8964-ffab-4ec6-92a9-b086f294e331 CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f622b9-063d-4be8-9b85-cd311ebafaa3 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23aae64d-2948-491d-acd4-cea5cfd8f564 CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec5ff94-39aa-44ff-bd45-6091db1e164b CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7dc84055-7ac8-4931-a3f0-de86080f1695 CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633d8993-011b-4904-9961-c2b583b467db CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 720e8eef-97fb-4b49-901a-21a10665d30d CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c2f9776-110d-47c8-ba0f-317643998bbf CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a6b99d1-95c1-4775-830c-39b7f84e7ee5 CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcf432d-0cf0-445a-bb79-5263290c66f0 CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c1679d4-a88a-4985-8eab-94644582b2b4 CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64aac752-1148-4a7b-b419-9d162d1f3171 CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 530c6775-cf36-447d-aa3d-1f9d2e0bef44 CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76e58ab-fe27-47f7-a28f-cf1ccb3cbd78 CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85d36e04-e5b4-47f9-886d-57e5bd66f9b5 CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f540e141-a8bb-448f-b354-40c6c67e6b09 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f64f8a99-7e1e-4f99-a111-2a645d445b0e CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2824543c-dcbe-4d9a-a8fb-0ac0671389b5 CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb9a910d-3aa6-499a-8fc0-1303d3980612 CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c83ae48-5a6f-4dd2-927f-35d1d0c4d333 CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e1f76cb-d475-43e2-9e1e-01279817b24d CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52315a95-b4d0-4270-88c4-d9ac3628f44a CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d05f57bb-c916-4844-8f5e-83aa3cbe0c28 CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6dc267d-cc70-4f2f-b925-dd30eb6b25d2 CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 246387e1-2bf9-439c-8ae0-18cf5baaa1f9 CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f8b862-da88-47f2-af4d-d2f126b2d387 CA2582115078 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0ea8f99-5ae5-43f1-b118-bddb88e9cec9 CA2582115078 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acecefa0-7912-4904-b3d5-aa9327a3bc08 CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d87b54d-422b-4a15-b8b9-c757b21e2e28 CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 139a10d1-be08-4dc2-b54f-5f5d7b6f179e CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd754858-4856-4f98-8289-67050baa29b6 CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ba75ec-d15d-488b-b7df-ef27ead3e831 CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a53f6699-8efc-4a24-bc6e-4d41766b778a CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119beac0-ecd5-4ac8-a418-ebefe17cd866 CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22658ae7-a887-40dc-a2c9-aebe725461f0 CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb60087-6d54-49f0-b76f-5b3700e0ccae CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 348a7f22-0655-44fc-9504-8314c9093f83 CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec649b6e-ad76-4326-9e3c-610b1a894b96 CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d19a316-98c8-4c3f-8948-930c8163986c CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 963bdf1b-7dd6-443d-8d89-41bf01d876c6 CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21c5049e-9345-483a-9b84-5277482e7c0e CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e50b5c2-ab2d-47fb-831b-aea9c5e6e931 CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16229f0f-ce19-470b-901d-6ebc8c1f6e75 CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25694f1-b4ba-404c-a48e-eeffc8228e38 CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19d52620-8fd4-4640-bea8-c584ffdb8968 CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9282f951-23d1-41ff-b441-ef54cd9b623b CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3f5bc17-c41b-42e2-91f2-3a7a7cd63aa8 CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94430f1c-d5f9-4253-81c3-ca8cd2db84b5 CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fea8f70c-3b32-4c47-a4b1-42f13664ebf4 CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2d41e1-a20e-4a68-af09-776c4ec59de9 CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18bd717d-e81c-4e0f-8829-882465a41c32 CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bbfb9cd-5b2e-4208-a6b8-2de1f7873756 CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 376f34f5-932b-406e-b3b9-ed3c16d3b21a CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01019676-05bd-4c67-bd7d-788200d6ebbe CA414905047 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e307e502-8084-497b-83f6-a7f22018df72 CA414905047 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49c6be0f-2791-49b3-abab-122eeb762d8e CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c3408f9-5208-4b81-a73f-9add58338b9d CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2527c91-7efc-4fc9-9d40-59f9ecd53ac4 CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e1a44f6-1dd3-46c6-ae67-e7805a02019f CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39a585d-0cbc-4801-a9c4-19edd16e197f CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63a67100-a30a-4495-a952-d81618c5c6c2 CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae19e1db-6ce0-408d-b1a8-b4a4bb5026bd CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f22768eb-47d2-4196-be43-8a3f6ead539b CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d60685-90d7-4db3-bebc-8f1964385a24 CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a264d0a1-90d6-47c8-adcf-f1f5af49f0b3 CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a911ec-adf1-4790-9be5-da5cb8af1050 CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1572f77-165b-478c-9eee-9393069f34d4 CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b642291-11b6-4009-ab1d-dcf5ddbc52b2 CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b5069e4-4e6d-4d97-9f9f-b62f07052e1d CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c8abe5-91fc-47f6-ad23-e0010e7ffbb0 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fecf0940-4910-4051-a6a9-bab4a6229cf8 CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d36c24-e99a-4b32-a6b3-8154f71c2057 CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bf61bbd-d391-44ff-98de-6a081454aa9b CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f27b52-7bb8-4d57-a013-ef6edfa22ccd CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc0e0d55-a997-4a8c-8e97-e7247678c595 CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1fe293-58cf-4c75-9313-7a85bd25c758 CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c9de5ee-5d79-420c-adbb-cc4274759d01 CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d50d9d-61bd-40d8-b4cc-44021bc1361e CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4631b2b5-ac75-4412-8667-fee4ad68edf3 CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb073b90-d0ea-4221-ab27-f47c87b3f40d CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 668f67cc-a947-4ded-a141-8930489dc7f7 CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ea22c3-3f9b-4639-abf8-73531e0d0007 CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de57228e-2112-4fff-95a3-2a7a701cc56e CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4cdb92-9f2c-4920-9427-fe16cc588a9b CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 349baac9-25c0-486b-a728-4e18148281dd CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28f8fdd-19f1-4d59-a144-1f5f5f7c7c9a CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7508c52e-379d-458f-a1ba-46b4137ecc09 CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222db9e2-f569-4389-895e-d474efc23c89 CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ad565b1-da4d-4f0c-a6a3-4cfb3a0a14fc CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87bdaf40-ff28-4f3c-8713-e25f62314907 CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 607e55de-f0bc-415f-bd41-94a734dcabd8 CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b0dd6e-715f-400a-9637-e98f0b6200bd CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68208413-eb5e-493f-8dcd-8e950ad68057 CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2023bc-d783-47be-995b-acf4fc0e0356 CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76f270cd-563d-4bba-bbef-d678e34a88e1 CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 839051d6-e9d8-4a7f-8220-5feb5b7cb724 CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d3714c9a-ab0f-45d4-8179-4f90a38e8eb8 CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc73364f-9073-4bcc-8d1a-cf319d3d4011 CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 613983cf-214a-4a2e-9284-bfa61706b762 CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca7be5e5-66c7-4d68-a68b-9ffdf646733f CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen add0f99a-40b9-409b-81bd-4f6117aac519 CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03582a6a-a503-4856-b69a-f322ff95d8c3 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d41647e-2839-44cb-882c-961e61559e90 CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a56569d-cefb-459a-802a-6e0c5ab0dcdc CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10a7efcc-261c-4bd1-9653-625770e4a4b2 CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e01497-6c11-4ae3-b17c-860b5eadf8f4 CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75c34495-f9ce-4247-a771-bb304cbaa267 CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56044d33-92f3-4570-896a-bce3bea53cbd CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e681589-72cd-4b3f-a6f5-3bfe71d866be CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1444e10e-e4bf-4ec9-b704-f29df9db94e5 CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e8370cf-d539-4f36-9880-9698669deaf6 CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f2fb84-d49d-4769-94d6-a67402677db7 CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8c98f3a-3cef-4b0d-adde-bae6755e2a9b CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aace0908-da15-4c55-9d51-4dc8f6a303cd CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ba0597a-3807-4ab3-aeae-f4062c8f495d CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076757bc-6d6c-4fba-a733-11b499e1e598 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60445a94-4e56-4bb7-8332-46fb8c3368f2 CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f918330a-f837-4931-898b-e5775627e204 CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 768a8b65-4774-4a0d-aa78-783ed885ba21 CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ac4333-0322-435a-9e8e-b3c06028e891 CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 786f1403-9dc2-4297-833f-658448bab04f CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da71fff3-a9af-4a47-b515-648441e8960c CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d62adc7-2744-47d9-a9ec-a3e6877f413f CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a95f695a-e0e8-48ad-822a-c6960f79de21 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd8f12dd-ec0a-4f5a-9b02-1b28f1c63792 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928e7ca7-9220-4f3e-a5a1-7291123bd630 CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8c70bcd-e6c0-42c5-a116-17bbea1c1c3a CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d02826-5933-4e79-9fc6-585a542b81f6 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05253101-818c-4cf1-898a-d6dbd429ad27 CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe86c4da-20e9-4a29-a3d0-232c76c5548b CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 115a5fa7-1270-4753-86ec-cbf4d86f7238 CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74dfa4c5-bdf0-45a0-adaa-ae62cca30d33 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa51cf53-4998-4ef4-8db0-40747439e139 CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f1695c-7951-4086-be51-49fa4e7ba534 CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9441afdb-1e94-4674-8a9c-138b21fff017 CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed8134e-be2b-48f4-9e4d-437deae288b7 CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b73044dc-667d-4228-962b-a5100c679b9e CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99c1580-6b8f-4d7f-9d23-4ba03ce809ff CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6417f0f1-5c7b-4ed6-a63c-546231b541f0 CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22538697-5b3a-487d-b86d-6a267770628a CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f890fa8-70a7-48c1-8227-c047ca90694e CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfa0c1d-8c01-4e79-bd3e-f70f15826b8a CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e8b0872-031f-4c69-a913-b0cd471f971b CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929060b5-2e5f-46e8-87e1-671690e32b3b CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a66182f-078e-4bdd-9591-5960dfbfc620 CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3362334-2806-440a-a02c-820b4b30bee2 CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13b62a20-97ef-4499-a0d1-ff8fd2ba46f4 CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a4867d-ea8d-471f-8e72-dea3169d2dd0 CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef973faf-2c36-4e81-85cc-02a92d12a116 CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318dbbdf-d8a8-496d-b3ef-0ca96ddb5a32 CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cde13159-60cf-4a2c-a452-188605430fc8 CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607018c8-c107-4ec0-a280-fe0b1dba5d02 CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9b08461-1b84-490b-a441-2cb1917562a6 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79122b7-32ad-47f1-9c5f-dbb15282aa1d CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7025497f-9263-4f32-9a07-f2441833ad3e CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f592a9-942e-4c4d-b207-57f93256cec2 CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03a2d049-56ea-48d1-bc0f-431f9b3e4dab CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5848d03-4011-4e52-b0a0-2ca5b544946c CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b99a9349-62ea-429f-b0a9-d0f65d62ed27 CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d57d035-3ed9-41ff-a328-27c071ce1369 CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6cc4f60-b57f-482a-bf17-2c3b08c3ed87 CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26039d10-54a7-424e-8266-49ea0422498b CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e11b67f-8aff-4716-9bb2-a71ed2513a94 CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcbc1535-2859-480f-bb82-05329cf6d984 CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3a5eb5e-4f91-451a-a411-563b6993b847 CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a40dd8e-d2bb-43d6-8308-ae2ac4a700a6 CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9127fc3-6dd8-407c-9b9b-00382dc4c31a CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba41a82-8dc2-43b1-8a57-2bfada6441b3 CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7594e2e4-68b6-4b8c-886e-462c645a58e7 CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdecfe44-b660-4bd1-9660-9a588e6c0456 CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db021cb5-2399-428d-bd02-80606a424c34 CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf9bb79-fa13-4aa5-b087-10dc6f56e504 CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 494e8f01-8b9a-4531-8946-a54559f85e17 CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771d6b49-724a-4361-8160-5337c5be3ff2 CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b43a2d43-5217-4170-95ea-a212ec5baaf8 CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8485e13f-10de-4664-8eae-608ce83209c0 CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ca5ac18-6888-499d-82cb-a234ab281656 CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edffd0a1-5948-4e62-978f-b9d36001c9f2 CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1810c6ec-75b1-4afc-9874-8e9db8445bd6 CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec23ec97-87f9-4be3-b4c4-85a6d0efb575 CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 403db7d9-8339-4b73-99a5-bbfd5b8807bb CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f60826-9005-4571-8f38-4060e1ac7edf CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f93faa31-96e4-41cc-81bb-50d1516a2094 CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41cf2966-aff3-4597-ad63-bdd315841215 CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e741b1d-07f9-4630-98a6-bb0464dd67b5 CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515a2262-dac7-4fae-8b12-27d2f50b080b CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2c792e1-c173-4653-b85b-72cb0889460e CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd5cd808-2870-4e40-ab37-a843b39c196d CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 229bba9d-4ad4-4601-bc16-15ed556f0148 CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52f46a9-1190-4b2b-851d-69a066354c20 CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc8f3413-5cba-4361-9d97-a3bb19c7682e CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e19cb5-165b-4be5-98dd-e3d3f381cdaa CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94fe1c7a-2069-48ee-9097-b12cadea452b CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e3c4c5-ec74-4144-8028-9f99ad0f7a61 CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91d04f83-29b9-4774-a25c-7d7f855d2d53 CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d98ce0-fb84-4b4f-8bfd-fee5f70f1f25 CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10fd9816-3c02-42eb-862c-b852faf85d63 CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b82f762-1652-47ef-af1c-42cbcc2b18f6 CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97469a12-1505-4949-9965-bb8f2978c31b CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 806f3431-118b-403e-9977-d07814e056b2 CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f6ef5c1-a042-4eba-b3b1-92147bb3ca72 CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36696e3-ff94-4c85-a548-bf001cc11ce3 CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab93149c-213b-4b09-9c6c-78b70911c4f9 CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd0caeb-5899-4887-9151-393a7ccc2686 CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3c0e4b0-353c-45b6-9d63-dae1c8d12d82 CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0e3e3a-5c8c-42b6-aa09-4602ca2cb529 CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19b97158-62ff-4aaa-b11c-c1b85356bd9e CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2578c985-467a-4c14-aae3-65b2bdfbdfb2 CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b71cfdaa-6517-4f9a-bff2-486bf15b1922 CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42d09b9-009c-47c4-8a76-e495c433542c CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0aca8055-b15a-49a1-894c-f199a74c802a CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c105b7c-b92b-487c-adf1-58d7b36bde3e CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4439489a-5a7d-4a56-82e4-bb585741c746 CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207a51a4-4dbb-4836-9000-fcaa408fd5fc CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1862196a-9f2a-4fca-9451-b293d16c72f8 CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92451f50-300d-4a38-a0ec-75234ef933c2 CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6fec2e5-3ba7-49e5-ba31-497b64185218 CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d98b39-eca3-4292-8300-20a144b1d537 CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51bc88bf-3351-4fb6-9f06-c199204571ef CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865c7eba-cc5a-4a03-b4f1-9c6a3f597e86 CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 514656fc-e892-46ad-8f92-17c56e76786e CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a9ca2d-a5fb-46fd-a8b0-5a3ec6ff1a21 CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c235b60-01bd-47bd-a00a-c3bc38781829 CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888f86cf-6d74-4906-93a4-2a9f6e2eb70b CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d998f7d0-43c6-419f-988c-0c394b90c817 CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde049b7-5e09-46a5-9f75-1a1e651fa38e CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6bc3249-96d1-4e17-8a0e-4b358248d4df CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ac398b-4b61-4971-99d3-d93c6a0b7e1c CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c87ac42-9756-4896-a952-3c7285701cb3 CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e90592-b680-4f65-b69c-4c617f7562a7 CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c117d866-e4f9-45a7-9de1-2725d11aa5bb CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a8c7a79-b1f7-421b-98bc-15216f09954a CLINVAR:1115091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d50de2f-3664-47ad-a721-94fc1b3b568e CLINVAR:1115091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa2ce80-589f-4292-845d-53554d2e987f CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc210e29-7697-457a-914c-8ec68c8609e1 CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 053e6a84-bbbf-4da9-be94-67d0cbe0abcd CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d979157-d72a-43a3-acb8-d795ded47795 CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0825f903-55c9-483e-ab09-8b36a4b8ced2 CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f640f04-23cb-4006-8ac4-b13cb8af1f9a CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6893d0a-d252-4f6a-ad00-e836fd944bcd CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c02a31f3-1f23-435b-95ed-54ef387ed48e CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35abfc44-bc98-42ef-b335-965e6443ad5d CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89cfa085-4391-45a5-b6f0-01747873c389 CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ceaed64-922b-4e4c-b599-ddb259201e4e CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f7c8c4f-c32f-4d24-a58c-54f12d79bbc7 CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede47710-f0c5-4894-9783-1aa20984f8a5 CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c236399f-15cc-49fe-a546-ff67a64d8980 CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 108db50f-c501-4454-ab66-001b82331b9a CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 900be9aa-47b5-467d-ab40-436300883f1a CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219033b0-7a07-4b22-8fcd-db2e4be78087 CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4e312f9-a117-4f26-a5e3-36c42763e422 CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c16a1e-53c7-43f1-a3fa-60f17dccf882 CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ba25096-aeba-4ec2-8211-e0b24f6cf092 CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf1c4df-fabb-4d81-ba19-c88027631ca0 CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddad4e12-ecea-4467-930f-5d14c9ce22cc CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdfa61e-4d82-499b-ab3b-0d3061e9ad5f CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ac37b97-9b08-4ac2-80ea-6fcb8790b94a CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557e429b-7809-4cf2-8356-6628d65178f8 CLINVAR:1128874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f73322d-5b53-4ece-82e7-9bca82f5f862 CLINVAR:1128874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381ba396-4516-4a22-a5bf-4c3f67dbc717 CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b29e5f2-ba90-4707-b519-4bfbf67791ee CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1c3557-de0a-43e0-92b5-02baf411b304 CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1d445de-8c3e-4191-812b-05776f88dd26 CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e1324c1-f0c8-4d73-999f-5aa0ae77118c CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d0d54a8-98ab-442f-b075-f0e6852783f2 CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ba402b-c930-41d4-9704-c1c29215c7fd CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ef58840-1a03-4127-9693-8c1320bc4e10 CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bbb9c1a-772c-4227-8318-b49f1ddd1c7a CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb0d908e-b0b6-49bb-8aeb-2aa92d2a9eed CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e27d06e-c03c-49be-850e-1d7b79568a33 CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34dceb42-2e8c-4888-b11f-0e3015c7d459 CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc4df04-dd73-47dc-8c95-88eb0de937a8 CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca4ac202-a652-44c8-afb2-2504a62677f8 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230ff5a2-580f-4b1f-836c-9624be8edfca CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a361132-7dcf-41ed-88e7-c8d387711bf2 CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d15cd0-366f-436a-b534-f318ff77f7da CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c542d6d-924b-420c-b216-9c28afd0ab45 CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6a6b01-077c-42f1-82a2-ccb305849965 CLINVAR:1097518 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e5810a1-685e-46ad-9b02-19708302e6f4 CLINVAR:1097518 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e42d9e2b-028b-45a7-b893-af2bab791dde CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d08dcf3-8ba6-489f-8007-3463dd05119b CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b81034-57f9-404f-aa1b-090e22db3ff1 CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66240f75-ae7f-427b-ade0-86eb8db77ec0 CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ec4095-4053-43ca-b65e-02ec39714bef CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59cf37e4-da1b-4c6e-870e-af8cae514e0c CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6d035e-a8d1-4908-92e1-cb2320ec5163 CLINVAR:1094989 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98bdbc3b-e8d1-465e-a4d7-3634c31296bd CLINVAR:1094989 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67790c6-ca8a-4913-a272-5e5d5b72d94f CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 121c5158-3b49-4321-8d1a-407e11f73191 CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ac8da4-0eca-4106-a143-ba847cbc986e CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 203e8785-82ad-41e9-b11a-f622d1eb966b CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed21317a-2985-46e8-b72a-f2b3c7a31c5e CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9520bb93-e756-4a44-9554-84687d13ee22 CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb0f5fa-2dab-4e6c-80b6-ebf4d9c8e871 CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b6bbf73-1410-41f5-8edc-a59dc0c236b6 CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4bc45d-06f1-473e-99c6-eb088cb8259a CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen adfc5d0d-d80f-446a-aac9-10a97c3cafb5 CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09792695-f29e-49c1-ae22-834f226768f8 CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88cdc0dc-50f6-493e-87ae-b8f7d3ca79ee CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42da5b53-4534-41f5-afcf-5d2d2d60db11 CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85d9c38d-c771-4321-aa01-72ec482718b1 CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77571b06-0d7c-45eb-b41f-96b29b7a7749 CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae2d16ae-5293-4ff6-812e-ed5ff97a86bf CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba469501-eaaa-4858-94bf-56416376c35c CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f06f9fd-df0d-4d13-a5fd-4514677bbe6d CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2c02f9-8d9a-4a6c-b93c-5fefaf85ffac CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f56017cc-708a-4713-8420-86460e9c3039 CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4abd0203-6c92-4894-93d6-2d812dda83aa CLINVAR:1156194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28754d57-4c27-428a-a355-f069a96866c2 CLINVAR:1156194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68719af7-8c32-4be1-98bc-b1204b9cc582 CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7334d4b6-6b3a-4ec4-a030-5bf6f995ee29 CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b803a311-e543-4fd5-95ab-59fc0f065d39 CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 224f4889-bec6-40b9-9905-e0841acf549c CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471bac62-b9d9-473f-8626-66c7e7f55625 CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe777810-154d-4cf5-88e3-0a6b9c20affd CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4d8fc3-660c-4563-af5b-9cd1b6bb8f42 CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ca376e7-278e-4fd9-8824-6fd66dcea98c CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c83295-b67e-4bc1-8c81-c3dfe5e5919c CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80e8e3e5-9625-4aba-a606-ab27b6f0a483 CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb71292a-0667-4dbb-b418-e33dc00d7023 CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a556e099-cb47-4be0-9a5e-3e3d4e0feca4 CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27e7f2c-c450-4b90-bd4a-2fd371108add CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b4791fb-1ab1-49b6-bfb8-b1924c9eb57f CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d6ad9b-3eba-4962-90bc-9b69829890e7 CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9066887f-f208-4c90-b6dc-c4cafa5ac432 CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44bb001e-4b28-4a35-9856-a83f96bd5846 CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce02dfe2-b44e-4d84-b487-334b2b5086d5 CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b64c3008-000d-4a46-8711-54304e8cefc3 CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68a8f027-4f3f-4d91-8614-2505aa7f5612 CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4813410b-7d1c-413d-9a2d-a7489875441b CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eacd6bd1-ca0a-4a6d-92d1-19c3bea89d48 CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c061e3-7d44-41c5-b524-8dff597668d0 CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e8a95ca-9c2f-4830-9aa1-af76a4696852 CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4a0df8a-2593-406e-9fdc-a4739c3cffa4 CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fffa6117-04de-4a63-8c84-33a609651664 CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5deefd9-704a-41a1-bbbb-00596429933b CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5852404-cfce-4322-a863-9bf53e5123dc CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de9ad2b-4ac1-48b0-88d7-6de858d5b544 CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53b0f44b-46f5-40b0-8057-c16500b3af10 CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff8bb45-4ca5-43d3-ade8-398bb8c3721d CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17628a10-7ab4-4b6b-8cbe-3f684e117cde CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e4de0f-5fa0-49a2-8c1b-63e1b0c44892 CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48b9702d-13a7-4186-a01e-d43315478753 CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2876c428-44c4-4dba-bf32-776209407ad8 CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db4e768b-a32a-4576-94ae-23709d389b19 CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd647dc3-b7d5-45b7-8081-d4395f8c1df6 CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5f19909-70d2-4c55-9a49-c76e17e3f8d5 CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54bb31b-4eda-4d6e-934e-851d6a669baa CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d252ecfb-2c35-4a9e-889b-fee4aca74901 CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab2825d-3e5f-4f63-b969-2dff70562602 CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe183ffe-470b-42b1-8b2f-07dee01dabe3 CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a98b0d-43aa-4932-ac59-8912e59752cd CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 101719e3-68e5-4285-9130-b3c7ae90968f CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6f800f-dfb3-46b9-83a9-5751b04deb09 CA913179026 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66ff199a-8bbd-44a0-8453-c22fab598c49 CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9685a7e2-b5d8-4476-82ec-daf2f0e1115f CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f470e36-469c-4959-9027-8a69d0974b7f CA2573320431 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7b24dce-d2b6-476d-ba0c-d7ff87469171 CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dee17470-e195-4148-864c-121d1ad8d56b CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b45a3f7-0233-4a58-96d9-9335ff6b851a CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f70ee5-33d5-49f2-a3b6-bf743184315c CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da8446ce-cf87-42ec-b3f4-4e78fc2b2f1b CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c91baa-645a-4420-97ae-033f9bf34d99 CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11926f0a-89af-4e31-ab3a-1ac7784af193 CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 064aaaeb-bba0-4897-a403-f8ca777be4e7 CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7829586d-9539-4226-ac4b-b6699dc318a2 CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8d505d-3bec-4bef-8f4b-a3d7a5065f36 CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f204ac91-93a9-4d2f-b473-57525aae42e1 CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2fdc5ab-7bd5-415f-bebf-3cb0e0949dd2 CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f0339df-6c74-448a-b7d1-17d265166a19 CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66159ecd-6762-4471-bab8-bbd2ec1f6d0d CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e13035fb-a3cd-4915-a659-06061b0b4cb0 CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f5b802-2dfb-4dd1-9ebd-a213a82c43a9 CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ca92d7c-117b-41e7-bc7c-218e784aa0a0 CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5910e732-19d1-4060-9e0c-cb784cb3b280 CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ac691fe-3198-4e52-bf30-847841537df6 CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e2bedae-fafc-4ce5-9f5e-4a6b757720ec CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60cd9c8e-591e-406a-9130-eb4e56987198 CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d914abf-f758-4282-946e-aef9fde9f5fe CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ef84dab-2026-413e-879d-1b2367e4be29 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 728db758-f257-4109-af80-ca57ca60d2b6 CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d774e5b3-3aa7-4fc9-ba10-a4c38def5802 CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e786052-3c2d-4676-8ee3-f62b346bf5d1 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a661113d-6fb4-47c2-8b6d-b7da15cf42cf CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a50f7b7-0baa-4a31-89e1-20b537dc4dbe CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d55645a-c523-49ad-af93-b67c865e8008 CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fafc7f6f-18d2-402c-bbc1-062e70ed23b4 CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1904cce8-5541-4099-be6e-201a2ae172aa CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d9e8a1c-f418-4b05-a18f-1adaeea276d8 CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dfeb15-3a0a-4f2c-bb19-998141ca7b0b CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f562e8b-d47f-4533-9269-18ad2305f099 CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004e02e5-d8c9-48c6-b134-6990d679932d CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dfbc8b9-25cc-429a-9a05-1b6b2d10b86c CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23853269-778e-4568-af16-a3431de44d7f CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ec5b4a5-5939-42df-bd55-0fc3e7187252 CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c45dae9a-1cf3-45dc-ad64-45762a454927 CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e21ff20-5370-4555-a625-2b22b617532f CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e55f67-485c-43ee-a47a-edcd81d05422 CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72679211-36aa-44aa-a9cb-f3ad57ccc68a CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d923d55f-72eb-4ffa-8c8f-6c5c6274521e CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66a395c7-88fc-4bec-af2f-e64f5985d7e6 CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625ff87b-8833-49b0-8660-e405dad2f803 CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2949b483-ea24-4161-9da1-3d12f9a80847 CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1cb82ea-04be-44cf-b4e3-a44f1896b171 CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3194b2a-5d46-4442-9c61-1720d8c4356a CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b7fbe1-d738-4254-ae16-a3ca24772cc2 CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38b0c8b4-faa1-4987-b78a-cd3ee9060acc CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf49126-436c-48d0-af6c-da3979056581 CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff0a40cc-69d6-4b78-b7d7-b4e0458451dd CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7bb23e-e1ba-4eaa-9a96-829b6b5655f7 CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c400110f-ca57-4d3e-bdfa-18c26cd7fa0e CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff64f28-bc3f-49ea-8dbd-3c5269f74a74 CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66be89de-7562-4b82-af2d-68e6813d56ad CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7899e62-a796-4657-b5bb-664857e09870 CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12cc169d-f8f3-478c-9df9-cf4e7dd4326a CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d930ad-eac3-482a-95e1-3a600893ab47 CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 993223ab-64e2-4a42-a9bc-42ed5ec0d30c CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa787ef5-ac4a-48fc-b867-a91648606d2a CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f12cc80e-fa14-47d1-b69c-c1373066af3e CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 904a4fa9-447b-4594-9389-0ea3d775bc8f CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fe874b6-238c-4bb7-b3f2-762e9ad93be4 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb7dc81-fb75-4330-b163-2fe128372748 CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 509f9a04-30f8-435f-a02a-55776a2de931 CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2fb273-9425-428a-9739-25161d781d03 CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57ff7027-b936-4401-bac0-e9d9218791ad CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00b97682-4363-40c8-bfd7-32a90fcf058f CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a36bc96-3d98-4ab0-b955-fe0ecbf206ac CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af255e6-0c96-4064-8475-2ad9bd043167 CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e579079-622e-4c1b-9525-b65a3a577905 CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75bb661c-a2cb-40d1-828f-53ca0e7417aa CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce5eafed-588d-420f-8289-8935cedc094e CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978be4c7-0314-4b6c-ab57-fd2e37c8f375 CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b9a4623-5409-412d-b2aa-427078a95cc0 CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80bcd555-0241-4c91-aab0-3fa0e30a034c CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d93a09f-075f-4c02-93fb-5493153c7864 CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c75b760-53d8-47c6-9733-8eaaa7c48fd4 CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7128218e-f9cb-4f2d-b53a-180c85278c14 CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6528990-15da-484e-8d80-d3a9335d5b48 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 376b2726-3e71-4f03-91d4-61df66823622 CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033b3ff3-2508-49a7-90f0-5f6d87a4115c CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5df1408d-f228-4246-8556-232bbb172375 CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee4748f-337b-4b5e-b8ff-0c7ef38d2f60 CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6c6c640-283f-4686-a4cc-46d9ead6d9f1 CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41085b55-b0a2-49e1-8cff-d94e5222d414 CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d55688e-5ebd-40e6-b252-ac380dc7646e CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db48fdc-078e-46fa-b384-5a9fe9755874 CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 458b7b4f-ded3-4361-ac10-9ca975ead011 CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d026cc2a-6fa5-4803-8853-a4f1e79e2bf9 CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf939674-c363-4084-a4dd-1a3da6db54e5 CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e6df84-8058-439d-922f-f7a0039f5a00 CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 958c28c2-a52c-476d-8240-4e25867a948a CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b57e41-59e7-407e-bf61-814e3055cebe CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d289b02f-e07a-442c-9a85-1a5214d4878a CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b56fac7a-602b-4e60-9c28-9b415388efba CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1d34e19-8655-43e2-b2f8-83fc5b28743c CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f0e256-67bf-402d-be28-5512191aa161 CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09c838cb-e171-40f1-bbdf-c9c584ef28d1 CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d279d6e-ab02-47b8-904e-39b154b043de CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74ca5688-7fbe-42c4-be31-753bc4a33970 CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc5e707-d19e-4f08-92dc-510b742d954d CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f58b910-afd1-4175-95b3-eabafe8ab5d6 CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a746fae1-f4b2-4db8-b0ec-66b0eaccf860 CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2befce4e-0047-4932-a195-dfe1a48703f6 CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7da840ac-6267-4820-a363-e4a644c0a904 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e73a8b-2116-4c3c-8975-cb1dd1c58560 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd9eb031-68c7-4d0a-a3fd-6b530add8607 CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9765f89a-78db-4ff2-8652-7a76a1932da8 CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b54290d0-ccff-46a3-9e65-b91b1941aa8d CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe47fa9-9d15-4e81-91d3-0da7074602c6 CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64595743-14a6-40fc-930d-80f34c29c09b CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68aa6a87-6219-473b-a9f7-86d6f08a6dba CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c00a826d-530b-4d45-8e82-1b13e2af249c CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b62edae-a098-4c75-9b85-69d00fa96a7c CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1eab3825-30f2-4b29-acb0-d53059b3ebd9 CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30078b67-5728-46e3-8743-7edc085cb48c CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab5129f9-00b2-45d6-b28c-312d9d91c6b0 CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d27b06-b312-47dd-bc17-741e3eaf3505 CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 373ea862-5d0b-48d2-910f-2e1abcccb63d CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a847fb-547f-4905-96c0-eba32281f97e CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fded78c-f10c-4c9f-bcdf-a87865006a7c CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71caa185-1759-4529-95bc-d8cf7183a3c0 CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e46cdab3-4337-4b95-8aa8-61b9a3caab25 CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a937c05-aa8c-4df7-9928-7732d93fb479 CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd3fd01d-3d34-4363-9a0b-03c555f67377 CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855b631c-1444-4350-a2c0-98deb1691a50 CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71cf6391-5429-4929-a33e-2981fadb16d7 CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c032f7-6333-48d0-984f-51aa31f26973 CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be0b61d0-3c1b-48cf-a32c-4ca84a62694f CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83af5169-a181-40ad-a7a2-fd0c47a61c93 CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbde3e4b-d6c3-44e7-92fd-7289577b58ff CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b85d18-fcd3-4004-8dd0-1154bb107474 CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7644ba9c-92da-4271-81d5-2018788c2f3f CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af75995-4c4d-4d8b-a4b5-51aa43f8a169 CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd4e31d9-cb5b-4dbb-9670-43fa6524e168 CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f168642-6244-4283-aa26-0b19bcf2bc31 CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3b06a8c-0a99-413f-9f1d-979379652797 CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a39235-264f-4f00-a36b-867634a68e25 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b1825f3-ba98-497c-80fd-d0a3ef4b27f0 CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a5f861-044f-4146-98b9-2120115468df CLINVAR:2108802 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67b01760-b74e-4f39-8039-98abc80192c5 CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426b816d-0521-4d75-bbdb-53747e8b6813 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2810b804-bfcd-40ee-a8d6-be52cd6ae8af CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23772196-9ec6-4472-8298-d81fe55596b8 CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec047868-60b3-4e26-9764-1134f70378f2 CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f2cebbb-5c6b-4332-9a8f-fdb3fe745566 CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3140858-2290-4ebb-a1fe-8c86d6216988 CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcdd3ce-ac27-4b3a-a8ae-c1d4857f1f06 CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acce772f-6f98-4ef2-860e-551dea46d14d CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28977ae-5e62-48e9-9494-7fa50dc837a1 CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83020dd9-cb74-4f06-95ea-c74217410506 CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61816d25-c09a-4995-93bd-dc8602c875c9 CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e95fce4-3591-4a54-a750-180bad0d6ff0 CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ad156c-6805-4c5b-9e75-14a93352ad3f CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0202f269-9cae-4b7b-a331-3e902c2cd599 CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd35ebd8-c993-47db-86fe-b2f528eda87a CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f77b4ae-6d2b-4e3b-a18e-91a2ade7a2de CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 101efc3f-8e2e-42c7-8f3c-6d9488f2baa1 CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fd37403-5b20-4cd7-8a94-5475dca20974 CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e24707a-49cf-496d-b0e6-12e21ca97849 CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10b6d417-e8a2-4f8e-b9bf-21c8758cc2ff CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77f3e4f-b806-474f-9a8d-55bf6503433b CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62719a30-19ef-4df4-84b3-1926d260518d CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aff2c7c-37dc-4d74-939d-f88b45239637 CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1de3409-62de-45e7-a69d-b37090066c01 CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1910de18-13a9-4037-8cff-45dc4598298c CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b85dfa2-c26f-4141-893b-e5fc128e7902 CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aec2eb9-5d58-4474-a0c6-871c9f8e17fd CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d8a6ab6-6e52-4529-8c5e-9bd48f74d477 CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466efb88-27e1-465b-a094-15ecafb60878 CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a4a5bfc-884b-424c-b1e3-89e620f01713 CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7291fc98-cf7e-43d0-a2cd-f9a67f3178d5 CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06270998-d7cc-4fac-be43-befbab8900f3 CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e5b864-1169-4a74-ac43-b164f8f111bb CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c2c0cad-9ab8-4e14-899c-31cf33e8cd6e CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7240bc8d-a34b-4de8-81aa-33971eaeda80 CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8152172c-ed2c-4d33-83a4-5500cf4c2c70 CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67c1775a-ba8f-417f-9b21-0456f825db1e CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3d66364-63fe-444e-aa06-22da797785fc CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea261446-23a5-4936-97f2-29bc155e7b7d CA386972269 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1dd5c460-05b1-4a37-9ceb-87033e8b7193 CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e01de7c6-4f2b-4ea6-8363-3c8cf84eae47 CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91ddc81b-1f64-49fd-9875-4283c526f7dc CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed9b935-24cc-4476-bc51-5ae3135c25e8 CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f10a3bf-8cdf-4634-83cb-ed1dab4e32dd CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f72ab05-67d0-46e7-b08e-0c7baf299583 CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9547812-b0b3-450e-b6df-a99c51678632 CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7824d979-8649-47d0-bc10-f6ac9d36d54e CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d92b5276-e7f7-4c45-b844-e2fb7875251f CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc6861f-15a6-40dd-aad5-d6b9c044452c CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 498bc563-ef1a-4d04-846a-12cecccdc2d1 CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fec723-e94f-403c-ade5-f508fe8b3196 CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bba863ed-cdfd-4e9a-8622-aebb991bfffd CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70a2872-40dc-47df-9bb0-073489993a2b CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83e716bc-a106-4d53-9d40-02818c321d64 CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a932524a-24e1-47c0-bdb2-7c4a85f655de CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a66a4dd8-0bf9-42ce-9c87-26aee0aeb54a CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baefadc3-24f5-4193-b2ab-e33cd2866188 CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 114b0645-7b75-4b48-a98e-03249a659e3f CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6669fdd-ba4b-4083-bc05-5f9f84adcce8 CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d7b54a3-468e-41d2-a0bf-2ecf5fe859fb CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d6e85e-b1cc-4a7a-b54b-90a123038d99 CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85a92870-4248-4c07-bfaa-01b499e66415 CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654c6b2b-7747-46af-a148-dc052458b9be CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36568b90-b3e3-474a-8f35-f102501cef1f CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6358c0d-8cb4-4ec9-9fa9-02ed154c07e8 CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f239bfa0-19aa-4f0f-a146-f0c2da26cb51 CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11341d9d-8513-4cf1-80a1-56dfb8f557f3 CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b8bfae8-f275-444f-b71b-e780e8d76dbf CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cef5f69-e190-4420-b8df-ce14c0a436e8 CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9994b80c-b3b3-49af-945f-ec924898349e CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc368500-43fd-417d-898f-826c5e66c938 CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77618f92-d7ed-4425-8b1b-1e943758a87c CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 983bf5e7-1ffe-4e2f-8ce5-f0d56677a8a4 CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e0da0f0-2504-49b0-a5d9-7ac64f80e090 CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b53151-f2cc-44aa-a1eb-34ec5215983d CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbed072b-4d68-4581-b25a-048378a3d151 CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe5cd13-a182-42e2-9640-b791df3b24f4 CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0de5a79-a3f3-483f-ae08-690910b7f814 CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0893d986-968a-4e9d-9a92-011bf61423d7 CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f26920c-fd3f-4a41-a070-180a832fcd03 CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4397f4e8-a43d-446b-8d4b-fa8f67021203 CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b868eff5-3ef6-429d-bc52-5ca08f248588 CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26706426-9a60-44e6-8ea1-7576f82d0126 CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42cae679-54e5-43a5-9c77-dbf50fb13693 CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0629b276-d714-4ded-9e93-0d77e2e55cab CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fab06107-7f2a-407d-9e58-6342f72b2ee0 CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9c4e61-0f8e-4cec-89a2-1c827ed7c4c0 CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8ce2c79-2e58-4ff2-a781-3fb847fec326 CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ac0def-af54-4229-a92b-f78234addbc2 CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c956f13-04bb-4fe0-a560-6f34a1fe015b CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb4218b-9004-4f9b-bd0a-af6a375c9b01 CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 512ff3e1-0ace-4876-ad72-01a2320f4f06 CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21467aa-2193-456d-aa4e-58a58ebc71be CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bf8ada5-8997-4299-bd84-369b83099675 CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ea3c62-5db5-432a-b68d-c44fccc68090 CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea587bfa-b790-4d4c-afc5-af0382801a10 CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c581c2bf-bfc8-45e1-a877-6f756ddf5895 CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d1bf784-90c1-4c59-941c-152a5d194c40 CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3ec453-431a-4689-9c73-fd40a596eab0 CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0fa334e-6069-4204-8660-040ffba3e9b4 CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9a935a-2eee-4633-8440-2afb2675b46c CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5823322b-480e-4c27-b84e-02550a71f7ee CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8871c9d3-5f55-49ef-a59a-b783ab205b1b CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c961d91-f873-4e7b-a3ee-7e2323d71976 CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00355493-fb2f-4934-a26b-ec613a753320 CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ca65b0a-ac95-49f3-9dc7-ba8ccbe6f810 CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55243b43-c659-48a7-8c70-47a01abe366b CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef95509a-ca81-46ad-a7d1-79b4fd3191cb CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a17132-d168-4e74-8f7d-7666c1a0d947 CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3913d7d-e372-44e3-98fe-c5fbbdf38b01 CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a816408a-5672-4621-bdc1-f25b31779e3c CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2887c864-9013-4cbc-bd9f-5e065fe3016d CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97522842-bcba-4985-8771-a8e6be76b7a9 CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca6978fa-bbc5-4f30-b2db-91cf330e6bdc CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19864976-52a2-454c-b3b8-7a70982eae9e CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb25c197-3588-431f-825f-ef3650c7be30 CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6bce6a3-e604-4af1-a020-5e76624a8409 CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2696d0cd-fb99-4765-929a-b2b26f322569 CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1f096e-1208-493d-aea5-832e36caaa64 CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd9f92f0-b872-443a-bdef-df35e2a4217b CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9882f3-a277-41e2-86a1-b6672fc39397 CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ee75c4c-a3c2-43c5-aaf4-78e40b3bd176 CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2365ea-32b3-4924-a438-e10ec81d38f6 CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c47a3b4d-6844-4d17-84f2-8b4da46c5f12 CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9907a57-5225-414e-93d6-c831042b6b8a CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 464d9e52-f77d-4ab4-9d19-1dc98932158b CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9471a92d-d2a7-4e65-92eb-24b670fb4c07 CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f63cf00-8d13-4466-afc8-4f0fda31b7c3 CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6907ff0a-d952-40e6-8a2c-83381876b637 CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d549bc17-cff0-46d7-94f5-aa0e68081305 CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89dd6758-7b6e-41dc-b9ec-a98093b9f572 CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3822e22-47f1-4767-9aec-b7175fecab91 CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3162efa7-619d-43e2-98a1-b6f25317ddd0 CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cf1e812-c1be-4aec-8c3d-a18ee45eef7c CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e64866f-41d8-4113-b8e1-d559c86355e8 CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8af2f5b2-dbde-453c-86ac-51d2ba54515f CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8874485c-e8df-4282-a660-e7b43115d690 CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acba11ba-2af8-421f-84b8-b2dc50f76fac CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41b0010-ea31-483a-a1aa-c14919cee631 CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08090cdb-a2e9-4daf-b5cc-932b7e295e62 CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12959766-e2a7-4c9d-8d28-d9e36499f192 CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ee1ebe4-dbfb-4304-b9c9-736826babf82 CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3373906c-08e0-4c16-8989-49b73e494e62 CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1400b8dd-ad8b-40c1-8ebe-1c5487a62b17 CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84420e47-5f44-4f08-9a97-c2ee68cd87e3 CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31d00943-81e6-47b2-a4aa-bc6c79b97244 CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c29fbc3-caf0-4cd7-8d74-cdbc392c0f05 CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af597616-16ee-4d37-b163-e129f14229c0 CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df6ecc33-47ae-4116-aea4-4c7e45a87377 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b434bc-8592-4a5a-bbce-26b3b74d67a0 CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be3541e5-d40c-4671-881d-4c585ba48311 CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4878d8db-ac86-41ac-8a7d-3a6554b7539b CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e405b228-3cb9-4646-a8ca-6f9076755bb7 CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582fd7d9-9a43-4985-82d6-2ed04b7a9618 CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e10e6a1-575d-479a-b701-f55879abc425 CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a410e90-3af9-447a-a6da-ecf5b2469255 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97bbf06e-c7a9-4eec-89f9-b1273b953e26 CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d6543a-9aea-4111-8433-c2adeb09962e CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad1a1ab5-9d93-4cb8-9a62-e5706f94d15f CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3ec77d-c026-442f-ad57-43fa337f02d7 CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90473360-3d0a-4508-bb27-28e1a0a75ff4 CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6bc700-b473-47b3-921d-1eb3d9c03f04 CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 762c82ee-aa69-4c2c-bfcc-7bf2173098cb CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc070b1-7c6b-4f81-908b-a389da020049 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 279a575d-678b-47c2-8991-83f07bf3bc91 CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f5bb4f2-7a8a-4477-b47d-57fb536dc0b2 CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86624a77-8e79-4502-893d-8478075bff17 CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56673631-beda-4837-b7cd-7b32bcc5b865 CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e94f7745-aa43-4608-8be7-093b2e8147ec CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6123e5fa-ab0f-41f3-96bd-fff5bf44d901 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b1286b3-9b54-4c21-a3eb-efc895f9d160 CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94d01078-03a3-400f-b3bc-a7edec8322c8 CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ddbebed-2efc-4fc1-9276-9c09664e9c28 CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14d431e7-841c-4bf3-8dff-617a39aea8cc CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e456b8f-4950-45f9-a75f-5d3175dfd53b CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2b0669a-e2a0-41b4-9836-6eef2104512b CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc436e1-8772-4b3f-9287-8ac2c8d5c47c CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 672de540-4772-4921-b719-db21deadd8f2 CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a978e109-3cda-4ab7-9960-6bd336e18cfb CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 250b6959-034d-4d79-a73d-ee861714bfd4 CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330d0209-77ae-47ef-a38f-b2d16b9f78cd CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f702d7cc-0eb9-467b-ae45-cf53b98f51f1 CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e77cad-bde0-4e45-8d72-40e5707bde48 CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d489fb5b-af10-4cf0-9528-5bab6ef1a822 CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3fdaf8e-82d0-479e-a774-b867de30555c CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dd73f97-2658-4097-9f14-c5103552e558 CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a332e7-d69a-487d-8e3b-f9aea42473e1 CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 896de9cf-6e36-491d-888a-4098d507d5c5 CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55acf2e1-e394-4c47-9d67-dd1752452194 CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61af05d5-8594-4ae0-ba37-52cc032fe03f CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1954572-26f3-4052-ac72-fb1b3dd8fb2e CLINVAR:1338110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b108c5f-4670-4442-b719-f6b0168d93f0 CLINVAR:1338110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd7799d-9872-4917-b48e-b744442a6c14 CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b14453b-ce94-455d-9299-c71c6e311fc8 CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abef2ac4-dfdc-4af9-b890-50b197095e83 CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dbf596a-276d-4819-a62b-0edb296df1bb CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919b1dfe-c1b0-46ae-9a92-bc5d39e34ce0 CLINVAR:1114376 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8757b4ab-ad3b-435c-a372-e423f90adccc CLINVAR:1114376 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12dd90d2-3831-4e45-896c-b3eade9b79ad CLINVAR:1141521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cdd3dc4-7366-48de-bfcb-305d497abbba CLINVAR:1141521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246e84c6-ccac-444d-aecc-37c409948056 CLINVAR:1082500 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f12aa670-2304-4e10-a90e-197f680fef2c CLINVAR:1082500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 716d7b46-4f1c-4845-8dfe-2b414c108062 CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a73f1923-8638-4fdd-909b-f8909b1e3558 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81dc82ec-8cf6-4d28-bfb4-86569da2fbe5 CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d090c12-47ed-4d30-aa8d-f363d4d0858e CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6d97bf-837a-4aba-a946-a778d5740260 CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eed6d1f3-36c4-4f85-a86f-4678a6cea132 CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab02fd7-728e-4d7f-8902-c859d954a605 CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae387aef-94a1-4907-bfd5-903706b369b6 CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6997e3-3748-437c-96cc-8dea85e26179 CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f9b769a-fe11-4301-8f20-b4fee3d3c4a2 CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74ac74f-42b3-4d8b-ae22-b7563ace4c53 CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e016cf9c-029e-4369-b70b-015f1186e77f CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e9eddc-efd2-4c78-8c2c-5e0b1c92c376 CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef3a6524-0b1e-43b5-a41a-9da826fbd0c6 CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c140e6b-2d34-4971-a637-5c620a68dc8d CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44316929-7359-43e9-9519-61a98b254b6c CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c26299-dd9f-4b85-a897-c994acb0cfa2 CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0247f6b0-acf2-44ae-b72e-9727c4c92e6e CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54cca965-4bb2-493f-b085-2ebd0dc9848f CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30bf8319-8b9d-4e22-bb2c-4a5a432a0873 CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b0bd4d-6f67-47c8-9bdc-01a6be67bec8 CLINVAR:760670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd505791-2925-4bd6-867f-d21d529dd22e CLINVAR:760670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60868ff0-31c9-4fc8-b97e-d7817bbb5afb CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75e8cb23-b39c-4e51-a023-ce25c28d363b CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4b8a1a-fcd6-4ce7-9e12-ff90ee59ec0a CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b5311d6-b8c9-4284-9532-3caf5fa62f24 CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e4b05e-f444-47ee-a629-68351a5ae797 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 537f0696-9e8b-42cf-865c-8e8ce267f57b CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d46f0ae9-a506-4c25-8205-6a851f8da5e5 CLINVAR:1155928 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02abc32e-531b-4db3-a127-2da85b908a04 CLINVAR:1155928 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981a477a-d790-470a-af61-511fe434b1a5 CLINVAR:1162089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cff2006-cc47-481a-aee8-24a67f9e53d9 CLINVAR:1162089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f7bafa-bebe-4bb4-8b12-e7500da774ab CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb5c1d05-1142-40c7-98b7-7d07b9d85ffc CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81de86c1-2e5f-4539-bd4f-ea08a546caba CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d84ce3f0-7fc4-4f37-b494-081c0c3b7781 CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4c0d38-a5ca-41d1-b253-d9d94b9c8050 CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3279cab2-021e-46b3-9132-759afefa7b9a CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca0499f-f1d9-429b-bc30-bcea2e00c3eb CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b4add94-d3d0-40ea-9642-b66a8a1ab4ff CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65694a1a-0859-480a-a0cd-dc4fadb6be89 CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9bdbc9f-c384-4b46-8dd1-ad72e796fdf6 CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe295b4-84b1-42ee-b02d-a043902c1775 CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 755c34ce-206f-4ccb-98a1-8ab88e1b3a5c CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274fc34c-27f3-4f74-838c-660a036b5e16 CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 841f68cb-426a-408b-aebf-52e8fe9de904 CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f0986b-d64b-46a3-b735-c6674be887d4 CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f43d0a33-5bc0-454c-80e9-a68d08a88268 CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e45c1f4-844e-4e35-ab16-9234462b6156 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6977f93-b377-449b-8fb1-a231592bc2e0 CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c3f559-0df2-48aa-b050-20e01380810d CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb4f7166-77f6-4ee3-a32c-20d6ef86e7ae CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1501edcc-b789-406c-be13-dce8bbff8d6e CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28e2af29-efe8-44c4-ba4a-1a90b782d16a CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e026226-a5c9-42b1-ab2c-c846bcb27586 CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d470c02-76d4-48de-9169-fc9c7c46ef3f CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb5e797e-9477-4d38-bb52-d533b1090492 CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da28fb84-0632-4f20-a360-845768accb26 CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69710889-7e9d-4030-b0f6-47fbd2a09231 CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5095e227-7742-4af8-b563-f41dba4f8d57 CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf9cb07-a255-43fd-afbf-2e7d30996d79 CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b100678e-efe3-4ba6-af2b-ff7cabf170eb CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa57a0ff-865e-4ed7-97c6-f70313b25a5d CLINVAR:100337 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 832f6bec-b9f8-49df-80c0-69d85d7eb38c CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c54db53e-3fdf-44c6-ac7c-fe36a200e402 CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f557a0b1-60cb-4221-8178-b23c7b331fbd CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6d53e3-a429-4272-a07d-beb32d9c4ecb CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c6a07f0-cc30-4500-a3a3-eaafb85a6d95 CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869b91cf-8615-47f2-8cca-d5aaa64f1a22 CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e39d7c62-8412-4b5c-afee-9d2f9b9ab80b CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d722ce6-e478-4957-84af-4ab07eec6ff8 CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e29fe6ae-49a9-4902-9e34-c6677f04bfdd CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39510a29-b5ee-4c8b-b47d-52cf3ea8c381 CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02061810-045e-499a-bcb8-cc23c95ed4cc CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36157d23-ebc6-4e3c-b56a-8a4ada5f2e9c CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ebe0303-f2d9-411b-8103-02bc5b0b0930 CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9858f2c6-aa8e-4417-b9d4-6114facfa361 CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3727734e-3506-4976-83e1-e51b399918b8 CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21178b08-eefa-4735-b31e-ebfdfb7f2253 CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 063b54af-af79-420b-8e34-9288b49292ac CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b0b2f7-cef0-4b00-9866-8c7d395db1d3 CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a41384ae-ede6-4161-a7ad-511aaaceedc9 CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14c0782-3989-4708-b66e-c57cd98e6167 CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f3218e9-1aa2-4f18-b5cf-a4020a110ce3 CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f1f3c1-a8d5-4362-932d-16f9c3ee5efb CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73f6605a-e083-4b4f-9493-53f83eca2960 CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad61a7da-bd35-40e3-b8d4-77105095da8d CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b76258e1-d4bc-4d48-a81f-5904bd820f0b CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8581d9f-5ff1-4369-9330-7c13292a3268 CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf8951e1-c633-4869-ad6d-18d41281450b CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c7f8a7-476f-40d6-abf8-f702fb738b80 CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 786ca95a-d734-4fd1-9945-b09326dd2489 CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbacd69-0ea4-4ad1-8f9f-467d33a0ded8 CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bb994be-b7b7-4a38-b23d-d003c27f1743 CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1158bf7a-524d-49b8-a6f9-f11f6076e59c CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9cef68b-883d-4b2a-936e-3ac4fd68eca8 CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ddec82c-b194-4d5f-8bba-691bb893ca00 CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cd7343e-6890-4d76-ab01-b1e1250324ab CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ce2411-5670-4c6e-b1de-8324f8fb671b CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27fbb79a-dc22-4380-a39f-01099ced072d CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f093061f-9cc0-416d-919b-aa0cdfb3c7e5 CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1bcbe9f-7261-4df6-bdf0-6f44ace77c8a CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f034510-2579-40af-884b-e85725bc15b1 CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1460d6ff-dd69-4071-aee8-e2e80e35452e CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3c74c9-e1dc-421b-8f8b-ca7b9ece0702 CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cd06725-55fc-47f8-879f-bbd1c2c9255c CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78eefd6e-d2d4-41cb-b30b-15013bb277f0 CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac500b6c-8f6f-48aa-b7a2-1ae76d878008 CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0fc625e2-cab9-49e3-8319-c2252b708e2c CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05371987-048f-40ca-8d4a-f988d09cc828 CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a58db63c-d42c-4e9d-8e0c-e2c16dc959b4 CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5542bee-040d-4470-96db-150b269afc4f CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7de865e-a72b-4899-a483-404395521ef9 CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0429f4-ba6f-42f4-beaf-a0ae2e1cd560 CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce1b5752-bbb3-4627-be4a-fa9639eccb03 CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ada700b-a5b0-4610-8c66-21a62a35abba CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b55bb028-8002-4c6f-b964-5f0405f453a8 CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e5b5ac-d718-495e-9e1e-35d393dbf8ad CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f33e137f-3310-4e6b-9dfb-fee11682596e CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7307c301-d380-4194-a4ef-b612b663d927 CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19986ac7-fac3-44d4-b395-9fe1115d40a3 CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21df0746-2f07-463f-b3d5-02b4c51aa6e0 CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c646583-7fab-4a3b-b9e7-388ece71a049 CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c777d12-5a2d-4d44-b891-f89fb5b3c661 CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8675c729-afcd-4d08-b18d-ee0f4ab0a886 CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93588009-6f69-4888-881f-771b04d4fc32 CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b4bfaca-26fe-452b-8738-18dc6ca56dc1 CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ff1b71-f01e-4ba8-a8e4-052aef3f9c1c CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 611bf2d8-790d-4bb6-8980-a8aedf4198e4 CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14455fa-86ea-4668-a520-758cff789737 CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7f1c2bb-88a1-45f1-a1d3-ffa616a71dba CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c178145-199c-4449-bb02-6a282dd5bd1e CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82e272c0-7175-40c9-89a7-57d4d5873566 CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26cb3acd-65ad-4b44-b9a3-09ea375062a5 CLINVAR:1338528 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c78e44ee-0d22-44ef-a4c8-f1ece9d4f8e5 CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71cfc96e-f2b7-421a-a325-f43bc88a9157 CA916084356 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b0d5ed7-1f74-4c20-ad4a-132b7d8dda61 CA916084356 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fc845a-c172-4043-9f13-7a873757840a CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21b65f9d-87d5-4cdf-b878-e48935681dbb CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cf4a39d-f9c6-4b8a-b06c-6c7d097c10a0 CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38ea65c-8e68-4bc2-8308-3370a53897cf CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3264f56-fdd6-405e-b73b-9d87a0f65914 CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117db918-ce2a-4e9e-97a8-54e77e4b2cff CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e2a8aa2-ce6e-467a-82f8-89f475b5b9f6 CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a78bdd-d74a-461f-a95f-6ca2d12639ec CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e78c3295-8fd2-4f3a-a4a7-3da570f1fcb0 CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4cb892-ea9e-4f93-87af-a89c161783f4 CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04925ad6-5e81-46cb-8c47-d28371b45f08 CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c0820f-c98c-492c-851e-046d6f245555 CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6575d514-7fc0-46fb-9941-9b9c6c81b9a1 CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7862fc2e-8b18-4d97-81bb-56b9d8337931 CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8926ddc-7c3d-4b03-9c10-8a1340d2c0a6 CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39518ec-0fa6-4214-bd68-36e96e4dea0f CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87769f39-d66f-4c56-8937-1e3dfff3ff33 CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f07ad4-fa81-47ad-8a72-366fe40b3572 CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c0d56bc-5968-4a86-9a91-082a0dc61430 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192f4084-cf22-4b7c-92dd-1479dcb572c1 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34c7bfc5-1928-42f2-86ac-62d13ea0e5bb CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e77767-4ef4-4209-8932-529fcf87080c CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 607c2490-92ea-474d-95ab-9207290769b8 CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aefe14a-81bb-4168-91cd-41a1dcf54308 CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b304bc4-3428-4f71-be7e-493f761eb349 CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5fb8f1-47ba-4579-b9b0-b45fcae30f39 CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34c63543-bd87-4f90-b4c0-20584c4623b6 CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f03b31-5bc2-4c0b-b947-5393a789d270 CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43ce2395-e3a7-4ebb-9783-1d5cb314e6d5 CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a93ab7d-acc3-4303-8a4b-fc2af380af4f CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f913d60-954c-4df3-9fe6-a2b85baad02a CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c10609b-0490-485b-b03e-b70820f8ba65 CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98d1218b-8f7d-4119-9859-ac3bd9c805bb CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc0dc73-a132-4a42-a54c-851b170ae2b0 CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 924c1fa6-8434-4169-8822-d63d52704924 CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817bd308-748a-4ee6-80bc-d2b4f968f0e5 CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa61ee39-c4ac-447d-8123-abc19f12f1b7 CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff1b24f-b807-4b37-8d62-6cf8901d182b CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66919afe-5a06-4b0b-89e8-17514d594e5c CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c65b43-2d32-4b87-852a-dbc89bff2abb CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a6e7fba-c3fe-476a-aeea-fbf164fc32d2 CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed339274-ad6b-46b0-b5fd-d6671eae61f3 CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0705462-5ad2-4e96-888a-7aa1cdb6e5d2 CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c988ca-e5f1-4ccb-9ff2-d510515eebc4 CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 474158f5-6ad3-49ee-a416-d16a4acba621 CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865dc4dc-4882-42e8-b489-a47206cb48e8 CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e86fc7e-2a00-4cb5-af02-ee4a008bda1b CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72724518-3628-426f-8cbc-0195f6bd8b16 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02873445-ed66-4000-8ddd-543c6360050d CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e61989-dc7c-435e-8338-fcd06987fe09 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c16df681-b571-439e-a905-c78193f77244 CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e33e5a-bd7d-43c5-beba-be212c8b3e0e CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26dba95d-755c-48c7-b32c-561543f023da CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1841524e-72b4-4cfc-986e-e6fd8322c8c0 CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b33fb780-a469-44c9-94ae-6c815c8384bf CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9da7b6-d4ba-46e5-bf41-936fd2532660 CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7be161c5-0e86-4da3-8a0b-7825b3545376 CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc53962-a7bb-4d29-9dcb-72d15cab6b91 CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de15c476-e89b-4be1-bbb1-a65a86ae2e69 CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5462d3-fd5a-4721-a614-7111dc4055b4 CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5772518b-167f-4edf-a1c8-ea08f60b68d3 CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3944db-1b12-4025-93d5-5bdc8ee97007 CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f2430cd-b524-49f7-bb03-476d625e323f CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e072069-1e50-433d-91b3-691f81115203 CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e7404d1-5934-4260-b343-381cc4ab5e9a CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5142beb4-0d69-417f-adb0-335906ca0d05 CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63ff090f-8b57-4414-9193-57cf6695b40f CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dea04c9-97f1-46e5-861a-68a71ad0dfda CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4be264d-bc04-4d58-a5ef-e28517fb04d9 CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1078aa86-8a42-423c-91e7-0a017b799f7a CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8937c96-0d51-42b6-8fc4-8fff4c9e8349 CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba5a652-702d-424c-b1b1-ea07ac22b834 CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15828c2b-0665-40b1-95f7-54efc46d5b04 CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9773ee2c-9430-49be-8cc4-029d8413f5eb CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee8cdf0b-58d4-4fa3-aba6-3789e158f3fe CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee007f4-1406-4380-ac7e-323402a8213f CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68dd9ccd-d6c3-4726-8c0b-831902f3af5c CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ff0b52-a048-418a-b158-f00a16d71d2b CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cca0be9-4c27-4a74-8f03-342a00838ce5 CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb95cc4a-0cc6-4171-ba75-7958d7489b8e CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79bd883f-4736-46fc-ae01-16ed64eefd7c CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0896381-9a2b-4343-b3a9-c16e2ab12c4a CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 245bcb0a-51d2-4602-800e-b049724ba2e5 CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ec076a-a701-4f77-8457-c7bbd32ef75a CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abbf4835-3b44-45af-aa3d-785e17cf4f22 CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679e97b7-22f4-455e-b177-3f868a65b914 CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a67e73cc-ed96-4738-b60a-8ee038a2f999 CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6aed554-a1f4-4c6b-b099-e454275090cc CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9965cfc5-31cf-4734-abba-46965a60efd7 CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa95902-9689-4735-a253-559bc04f87d1 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 282999df-4406-4ab1-9e9f-857df447431e CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3888527a-a3e8-4f2d-88d6-899a8b27c36b CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c7976da-5f9b-471a-bef9-bd6a3e4547da CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81d5962-09aa-4ba0-873c-5bb8e5a135be CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1bf627b1-5f7f-4c44-a1ba-16e1a024e064 CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2627a4e-c72e-462a-a2fa-4a6b7472fad7 CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 562fa1a2-8fde-4712-8654-d23dadf9b3c2 CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43252e00-0ca2-4852-8506-8b4d44bdba0f CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7a285cb-30ae-4485-a8c6-49b49ad669ec CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac54e0e9-0d39-4752-83d9-9868578f61b2 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bedf988e-0f82-404f-8e9f-24c444caa9f5 CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5dfc0df-8c54-4f21-87ab-5b3f1900ba1a CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03fac185-2cad-4f7b-aec4-cf27ba5e66c9 CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8ee811-d8fc-43e7-95bb-797eddf34373 CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6559f1e-0851-4876-aff6-10be428cc8e6 CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e738a61b-e950-4b06-b13b-5c00deb8d6e4 CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31404793-e50f-40b8-896d-2c23c02b9900 CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e41dc9d-0e9b-4bfb-a2e8-b63302dcbd7a CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02c294a3-8a0e-468a-b748-54c2afa7f1d8 CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0a4cb4-c1c2-446b-a82e-5de8bb5faaad CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b87cc429-e28d-47ac-9f4f-ed6b80f53cd1 CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55998175-c8ad-46d9-9d80-a64b647102ae CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55cd1ee8-a07d-4b0b-bffd-5b26c3e4060c CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed06507-ad05-4851-9c50-6a92f00fc30b CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bb0c840-6f60-443d-8209-3f4aaeca0f91 CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cb7ddf-798e-4162-8b42-648e58c9ed1a CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a474e2f5-f825-4b0c-ad0e-137f12c5cc66 CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe28587-407a-49d5-b84d-0264dc41578f CLINVAR:515407 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ac1213e-e821-4dc7-bc44-e892601422ad CLINVAR:515407 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74cf3689-9bb1-4ad7-9d71-7e1a0cc880ff CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10ea3b0b-de1d-48fc-bbcb-cf7d8aa0c95f CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d3210c-8a95-43f9-a475-20bc59a2838e CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd99ded7-3b8a-461b-807c-78bb6f53f9e5 CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ac6d7e-a0d9-4c7f-aed5-076a73c56a84 CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4acec40a-c9ce-423e-bce3-886cfc6c479d CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0070558-ffa0-49a6-874f-ec9b35330e54 CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ba3bd6b-f0db-4683-a486-2de4d2ca185d CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5ae3fc-220a-4134-99d7-1e0bb774b4bf CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4826aac7-9dd1-4ed7-a4ea-85da85e38235 CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df243716-626c-43a9-b12b-cb455490ecaf CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84c0746d-ce62-4228-8246-f6f44f0f9310 CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8800d5f-87cb-41f4-81b9-340a61e6bc5e CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98ef0153-cb24-4952-b5c0-4def34a0dd5f CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90908b3f-5b6a-4f6e-bedc-dc98938a6025 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d071f637-6393-47ef-b70c-a9be8623daf2 CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454c2262-a929-4936-8833-58fb7cd659ee CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57122593-f37b-4c6a-b38e-d128181dea41 CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c378305b-f7d7-4051-8842-07e865c9181f CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8d63508-f884-44b5-8303-b8a22ae8be19 CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76cff2f4-cdda-4a39-87aa-43e1516e5c10 CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 900c0064-d995-425e-b590-8ffcc9824efa CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92fa778b-ca98-47b5-a0e0-d6c418af7481 CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94157c98-6845-4a8a-bf13-56421cb0efd6 CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab65fa0b-b143-46c6-9a4a-679aa86aa04f CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca9ca316-2a80-4d67-87d0-684587f69dd7 CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601689ba-0376-4e72-a14f-28f2faa00b8f CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40836886-f4b7-4ac2-8ba9-cb45f241f301 CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8436f0-6b95-4626-aba4-849416dc000f CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f232cde7-cfd8-4306-a955-d80403f3423c CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f93a27-f407-45f2-adc5-791392fc9ee9 CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 642d7b70-684e-45dd-a753-5c065fb493da CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f43000a-9dd3-4b97-b466-110a19aacd53 CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92b0992c-60ab-418e-a303-88d85deb9bf3 CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d62820a0-8fbc-443a-a014-9e0c070abf1c CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd004b44-720f-4d27-a270-765b378d1278 CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6cc058-ca0f-41ee-ad3e-73673ae1d2cf CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0aa00467-dd48-4ca0-a05b-cf0fb7ee20f4 CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccdcb4f6-6ae4-4302-a331-e74a73b483e9 CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96d3aad5-e547-4a7a-ab48-89d762e3be10 CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6934caea-117f-47b0-a805-f9d1d9ca0859 CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac7b18c4-c0c7-4b88-b20d-56d1112177f9 CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19610e2c-697d-4b98-bacf-717f73f24c92 CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ea83931-aece-4a4e-ba29-f37916daefbd CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4cf6ef-9820-4978-a4f5-816695d25735 CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b501a43-e926-4b05-a139-223c6b43d7e7 CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1121d399-8595-4ec3-84ab-0074c30aa9fe CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7bf0b574-2f8d-4b3a-a328-d8a91632ca5f CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b249adff-d714-457a-8713-567b43111480 CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bf26d6b-f6d1-416b-9c05-387c11ad4af1 CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f63b18-ba04-4e04-bae4-1fa5ee810c86 CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ef2483b-f307-4d1f-abd4-fc5de90c58d6 CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9b5944-40a7-4153-93c5-2d65795b3fef CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4eae56f8-10f5-4781-8f2a-0e551dcfe80b CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74875027-aee4-4ea4-8e58-d807fbeb323c CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01813252-5aa2-4acc-a2a2-4440619acb3d CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6335ad-4ed2-4b8c-bce4-06a329aca010 CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8411eb5-b933-438a-a5b8-5d3aad17cdf6 CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bf6178-363a-4060-84fd-6f469915d82a CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc0d979e-ed86-45dc-b5a6-40ef7ed26d90 CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de648ae-07f5-4c98-947e-519016058e59 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b195d1a5-ca57-44d6-b26b-3a3f99c375ac CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e536919e-0577-4ae2-9fbd-25e737635b10 CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb74d802-5ecb-4a0e-b604-0eba44aacaff CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c4b6ac-0f05-4b16-a168-6eb43a9e9515 CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 597d88ec-e359-497c-bffd-7c6a93c4fa0a CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1315a1-0ed8-41bc-93cd-c9f5f9722ed6 CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc296fb9-363b-4038-bbb4-d4ab432a0ede CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f2a2e58-a94b-4061-95b5-65325774bae0 CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f8c588b-2cbe-4afa-b576-d5f228a53ad5 CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f8f877-3b56-4230-82ba-a53dd7709f8d CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f785b6f0-5585-4e1b-8c8c-44b5df0589d8 CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57df06c2-49e4-45a0-92ca-d5f5680899ae CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c3d4f04-8744-4853-8fc4-7836c1636f69 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be46718-42bb-4cca-945b-2bb48634ed29 CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 740f7d2e-084d-4438-ae28-e7d256388273 CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14065f10-5353-43a4-b7a3-59a460a434b4 CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b98a4e43-9b0a-4167-9f01-580d6cc99489 CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8f86a8-7f6f-4ca4-a481-66121d8ee668 CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d60d7738-fefa-419f-8473-45e06f6be090 CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5690723b-6da1-4db6-bec9-6d74e1540799 CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a8c81bd-2925-4dc5-8e04-a1eed3793189 CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817077ac-1c7a-41e0-876c-7e41091ad731 CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9639681-f8c0-4602-a5a8-4376903f3568 CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8193b90f-a093-489a-9bfc-629a9d9f1f2c CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c06e05c1-2364-4f77-9b62-dcf4064ce25e CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8909a208-4ff2-4e45-bb64-0c00fb5d95f6 CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bce364ef-93e0-4ce8-92df-89e3956a790c CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d07e3990-82af-46b5-abb7-2b9188f798c2 CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fe133d3-d009-4f81-b4cf-48a6a32be051 CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb007ef9-13a2-424a-98a7-c8d16e85466f CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6dd9dbcc-a49f-4195-a66f-09ea447bd607 CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b702d1d0-ffc5-4eb4-b5f2-b0cd2b71e8ab CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d88b74e7-e29b-42f7-9888-066fce03f0fd CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8203b6ab-ea35-4ea1-9d2b-16b68280f619 CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9a1f3e7-39b8-45aa-b2de-4010002c9c25 CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3608d4c5-40dd-488f-a283-c6c771bff96e CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5aa2076b-288e-4cf7-b894-0f9173407e78 CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6648523-755d-4649-9964-ac87d514e3a9 CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1aabe10-62da-42fc-bb08-d2016d0ae7ac CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76de849-4235-45e2-9874-86c54a9d59a4 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5222e52-1d43-4441-bed3-ce3f3e3fa38e CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90fbc708-45e1-48ce-890d-072b0ae75c4d CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b304c5a3-fdf6-449a-bd5a-4f8df1c42218 CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce05e6de-6e93-4fc5-82e2-7f8c07572e56 CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46cea652-2533-42dc-b1bb-4534acc703a3 CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88ba60c-a85a-4fac-bd33-2a23545bca61 CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26670a92-b178-4983-853b-6534a475c688 CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d8f2e5-d6eb-4b7f-9caf-c8a3923c759c CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cab3f0fa-5c96-4f8b-ad8d-a03f002a80dd CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d323cb7-436a-43ab-b03e-073512c92585 CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73aa231b-bd3a-4c84-a790-cc258e508b39 CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463b0a99-5697-411a-b3f4-8bdd0796c4ab CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 559f13b5-e4b4-47a2-ab6f-f9628857045c CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957ad482-37ef-4459-a5dd-b9286af44c2e CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d777ab4-d903-4d07-a6d4-70791be732f7 CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d411c13c-2c78-4091-a091-8bc258776cd8 CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d30cd67d-dd20-4719-810b-35e9d3251ffc CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84594389-0f64-45dd-8c56-6e0688bb2a23 CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39c05761-0829-4f35-aa8e-69a46283d703 CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a9864b-ff30-4433-8a30-af4260b41385 CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d03d9c84-9094-4a12-8c94-53a40520bfcb CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ef49a3-0a48-4a8a-a508-bcb634bae8e6 CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cae9d80d-7ef4-49b2-b039-4feaf6f13b35 CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b6873d1-3282-4deb-9786-663f0d34fd08 CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5411184e-8715-45c5-b85f-d4b4e566d962 CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da08fdca-73fb-46c9-97a7-0623320eab94 CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec5539d9-a0cb-4f4b-afa3-695ec667bc9c CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3091b25-03dc-456a-8a05-6919ef2e98e9 CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d1eb988-9b3c-4bf9-a066-6580efc0f715 CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 143f9c75-81d9-4b1d-9af0-4a60348410d9 CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd9b2478-b987-48ff-9f2f-abf981f3e983 CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1e42ebf-a1eb-4b76-a5e7-be3e01b5857e CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c31471a-b63e-4d61-81db-1e7de7026c17 CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a9a0c27-6479-4ec9-9a63-67b462cd4587 CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4dadea8f-cd3e-48bb-b1ec-18211bf0e871 CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4a8bac9-5c28-4fe8-b58e-3a0defa27ee1 CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e53c849-9161-4208-8fea-a8370cb95c60 CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f515b8d7-5624-4905-8784-d46e82e4080e CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73f18100-9b03-4681-8118-20fc48eed690 CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad2abb4-4d6a-40a6-9f56-316d2cfecd18 CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 283bcbcf-e3b3-4133-b72e-99b70eca6730 CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b8e383-1187-40cd-8c11-091ae457042a CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76dbc6d4-cffd-4bd4-84b2-1bfccc0ccd94 CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938a5847-48cf-4549-910d-29626b0d20db CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11e4e073-a580-452a-9426-4f1f0f434940 CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen affab35e-df9e-48a5-8666-2bfd77b22a19 CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc2c9cac-92b3-4a7d-9acb-51bfd3cc69a8 CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5ecac5-a37b-499a-8618-463613212f75 CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 889f8356-8743-4b28-950b-f7afc63ab932 CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f32988a-935c-4b06-977b-b2aec905dbcb CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc7ff062-31bd-4200-811f-3eec6a392a9e CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20889ed8-1b86-478a-8b02-b817fd45fd26 CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37a29258-8ac2-471e-9101-33641e1cc7b9 CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a837ea9-4b95-46e9-9f6b-65c1f1b48f86 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87404f22-7d0e-44b0-882a-be17d872e6bf CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0b06a4-069f-42d5-8620-b3ca08a73771 CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56cf5d5e-93bf-4485-905d-0167a4775c16 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d75133-fc0d-483a-913d-48839cd70b5d CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 207ffaaa-c4c6-4f43-ad0a-7a1f9a59512d CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ea6be9-d5fa-4c91-ac04-2dd9df836e1c CLINVAR:1948845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86115cac-6d63-496e-9206-88a313115410 CLINVAR:1948845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1aacb0c-79e2-40a6-83df-2184ab77f363 CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddfd6107-307d-4f1f-8cc6-f4c4cdef1e4f CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 126409b3-a80e-4fd8-8b98-01840ec765af CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94912fe5-fe1b-41b3-8dd6-5d35e50cb59e CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05882326-9084-4264-bb59-91752fe325ae CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b781fe1-80cc-49a8-b0f9-e8e91731ae68 CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c224446-1191-40cd-a10a-e751d168311d CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0ce6d02-e933-494a-a900-98a55bec9ae0 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b135cd-b819-47f1-9063-62ea9d96d952 CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74d34a3c-e3f5-4fa9-a9b3-3eca672a1d07 CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1b303c-9077-400c-878c-36a6d2307680 CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97b452d1-2729-4eff-a716-306ef24b9014 CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec88bbb-721e-49a2-877c-e8c2f94c51fb CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32261cd1-df33-4751-93af-6a280ae69eb4 CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159fa68e-38ed-44f6-8943-e2a75d0b6fff CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f882f24-bb55-4eec-8646-deebf16ad0ff CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 572f70da-bdcf-4281-b922-70f01df26b18 CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfa3259e-ef5e-49c2-a778-b9f05d3f8d52 CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e56429fb-80a7-4bf1-a23b-0437de5f1652 CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b4c0262-5116-4924-9471-603997743fb1 CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a981bb94-f6a7-469c-9b59-ce0963ff0152 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89b45468-4bb2-42df-acf9-a6ae83919baa CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63f2eeea-1eeb-4846-924e-426b8ca75ba3 CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 105fb9ec-d225-4319-be74-2ec82e26372e CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be1a8bb2-fec8-4b7f-a4b1-c0f90b09028e CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7b86d7-624b-4be7-8c52-e4bd6e8cd15e CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ba7c21e-b8fb-4ec5-8ee9-a66e78ded117 CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34dcdb67-b338-405f-90fd-16fc3e81e606 CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc37ba70-3118-460d-a7d4-ccebc0b4bf15 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 037f1347-8ae6-42e2-a927-66a895bfeec8 CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f885cce-77ee-47c6-b71f-3553faa27a26 CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f215e9df-fc3b-41aa-9a18-bceb1ec34a8e CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d876c5c-e820-4787-b566-3fd7ffceecea CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bdac7a-be18-40aa-8f14-f0c3818746ea CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9731d2f2-b4d7-4cb7-ae0b-9eccd2926ff4 CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854c6141-33b0-410e-97ec-729a652960b7 CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9db4fa62-e16d-4290-a915-833deb82a5a5 CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793399a3-255d-45e3-a4bd-3fcfda045c4f CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4f5b9c4-4a3a-4b86-8c16-c2544a78fcb4 CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbcda11f-58af-4ea5-b923-dc51814dc5f3 CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9e27802-5bd7-4d21-8276-187d23bc5291 CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058186e5-62e8-454c-a1d0-4d8d30a99f3a CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7406de58-ed24-4ec3-9cff-0becf2add15c CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a31177-18c1-4d25-9b0a-5ed0ce9d7ba5 CA410207999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62077af0-baf0-46d3-a64a-dab7c7cae57a CA410207999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc3d53b-5ee3-4bc1-8af5-044a71e38fac CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93def499-f0a2-4199-84d8-36038aeb6b6a CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b735b8e-65fe-4236-838e-db7c0b7229f8 CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a79b63f-678b-42a1-9a1f-fd4471c6a151 CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5e4a0c-402e-44a9-8580-a2e903a1e9c8 CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ffa2651-46f4-41f1-ac44-0e08afd2829f CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3279cbfb-187b-43bc-bca8-545303845ef4 CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ff1d019-f7d3-448a-8380-4fa4733706dd CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed86abe5-8936-4e7d-8298-4acbb58861ef CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1258fb18-e62a-499a-9ba5-6a717bd354fb CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76cff524-e1d8-4728-8be1-8633fa6f179e CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68e61e43-a018-40d1-88ca-9f4c20d0e2c8 CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b5cbdb-d4b9-40f7-a81f-76754d1d8916 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a176c22-0761-498a-95f0-3bd4eb703d4c CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75a9fda-0acf-4ea5-8f72-b438885691cf CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23785397-9a77-4460-9a6f-048320812fc7 CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401ef9c5-a119-4233-8ebb-20c3ed3e2235 CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1de7f169-3057-4c13-8fcc-62bc794a86f6 CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7731b3f2-b1d4-4b0f-9456-4680af99da86 CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29093a44-36c2-4938-81ca-c87f80820453 CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf11d96-776d-410d-9e24-7342f7d4cef4 CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea41a91b-0a3b-447f-bc67-043a3eaf327f CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9400bc64-14b5-4d3a-8208-9d63027957c8 CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c25589e-f055-455c-8412-0d91949d7b8d CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c46086-4c2d-4f41-8d11-697e9e96f592 CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16e6c848-da24-4dfb-a964-f7cf4fbb85c1 CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ce3122-327b-4dca-a22e-4a33a9289788 CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 784ab9cf-a92a-40c0-bca9-ce77872e1f82 CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccce6975-4480-4412-8f5e-7ecdb0b0f641 CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2690df34-ac6b-43e7-a42e-997353c181fa CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48dc3eda-8996-47cc-bd6e-78c900f7e0d5 CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b23d761-7c3c-42b0-8de3-c511f78521a5 CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4097e742-a0f8-4f21-b2c4-6dd3a820616e CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39d930fe-4f99-411d-9f3f-fd88c3f44d15 CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ebf428-9e50-4e5b-94fb-cd5a90ae3706 CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c70708eb-009a-4052-b8e5-01fff8dd4290 CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea436d99-ba0d-4868-b054-d6d110574673 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb3c64c2-7267-4566-a344-11ee240f20e0 CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e18b22-0a39-436d-aa28-5776b5ba6d1c CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc89c13e-7503-44d7-9d72-2ea2f928ee64 CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932f1e42-bb89-45bd-a4df-a3e114be8c85 CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bce6f960-4ad7-459f-a4e2-0c0bd74b3ce3 CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd21b2c-081b-42c2-9977-5eb41ec048da CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66f17047-f010-4de4-b976-e8129fd9a06e CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 760d6939-b492-4b5f-9e55-20395e73ee35 CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71079244-e5e9-4127-8753-7ab20bca9e2f CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94dd286-87d8-4726-9f9b-41e382813b8a CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33d1073b-0ca8-4b03-a96d-fefc91ef428c CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9336eaaf-0b27-48c9-8d07-eef63c44a9e3 CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52984ef6-47e7-4d1f-b4bd-d1d5f23b4668 CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2dbfc2-5114-412b-a486-4857a4b03d0a CLINVAR:2146436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f71ff80-49f8-462d-98b0-f5b8ee7e5a97 CLINVAR:2146436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b3db27-ab18-4ecd-873a-67a6de08c587 CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 000f2186-6c8f-41b3-90b5-0afc58d81486 CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52103c59-ac8e-4af9-b0ae-81b72eff5ea2 CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 955275b2-76ac-42f4-8ec5-8a1b920a2d37 CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385eca77-0008-4db4-ab7d-22ac065cc7a5 CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2467e60d-5486-44c0-aff7-ce98c19dbb55 CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6edb9d-408d-4ff1-8fe6-c045d81520dc CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8255d1ec-4bc0-455a-9871-2c875353eae7 CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863133d2-6441-40ff-a39d-aeeef6969b1d CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc8310b1-d337-436a-9019-7aa58d3c5ed7 CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bb1fde-28d8-44ff-8e38-030819ecfa16 CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c049d6c5-3ecf-421d-b539-fd0875807778 CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e51aad0-5d45-4f41-950e-85da688c9fc2 CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 312f9d2e-8117-4f8d-ab62-69c6d6a7feaa CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9660da8f-ca8a-4151-b856-37bc6d323fce CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 551f36fd-0bab-40e5-8ac7-6d238af6c570 CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07efcb69-5acd-4f96-940c-8de26b3731ef CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f69f1e67-1ed8-454a-95cb-30d92ad5629d CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b496b0bd-7d00-4e6f-b6a9-7b2746436171 CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9280d97-1f91-4403-9ddd-9915540d7f74 CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9976e8c1-3fe6-4d01-921c-8be14f6cdded CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48012a71-0153-41dd-b14c-f0fabcb84b8e CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa80d12-181d-4230-b24c-8bb813c89ab1 CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1097625f-adae-4824-b7be-b83d4603aae3 CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d043e1-26a0-462a-b550-ab753b13d5a3 CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4685c27c-c3d9-4c61-92da-eacdbacc8a93 CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31fe5ed9-87b6-4290-a172-759d1964c871 CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen febafb6a-d0ec-4aca-b235-1284a297d814 CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d87abe-d3ee-436f-b840-93de043e70b5 CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07cbca0c-59c2-454d-8669-6610b392cee5 CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04150470-6be6-4018-a671-b93d7e7b5f34 CLINVAR:2865768 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b80ab98-b132-474e-9266-3efce40cefca CLINVAR:2865768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272add9a-6b11-495d-aa23-0bce13dbbd86 CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddf73d4c-abab-4055-93e0-f18ab2ed3e6c CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31014402-10e6-423d-a7e8-0b8f40ce9ed8 CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e69d593-c38b-44a7-9e73-aa44a4cdffda CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99c743f-c32a-4247-8dcc-160da8594f12 CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebe2d877-9c63-43ae-9c8c-21e52ed8ca67 CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2804a3-beee-4273-8430-73dc2d2ea6d8 CLINVAR:2831823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7c19d04-61db-4678-912a-c3cbca9bebd2 CLINVAR:2831823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50c976c-6a7f-43bc-8c8e-ae093c50fb7b CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31bae883-25e6-4dee-8ed5-2c327a7689dd CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee85f26d-5eb6-4223-9590-8e651df16282 CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fab627e4-87ba-4b8d-af8c-33a0a6531c2b CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ba5912-18b7-4cf6-9a4c-b63d1ac63edc CLINVAR:2435494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1196df7e-0076-4565-81cd-14666962c2a6 CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e62bb21-807d-4d37-8943-b9e3553cfc23 CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e79ced63-4356-4ee5-82b2-1e1e21779c66 CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a305fe-43ab-4c6e-a438-15db9432bc7f CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77853068-7b67-41ae-99c3-48592a81043d CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb5dc6d-86d6-4e22-af57-6f3c164727f7 CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b901024-7018-4a62-a9af-9d8e98249e40 CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d7d5b4-eecc-456d-881b-c90cac2977d9 CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f39095a9-1bd8-4657-a0e4-a82bfd9cd266 CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217cbf46-3d3f-4297-b818-76ff25eaacd8 CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a1d99bc-3a86-4252-9928-dad78f3026ce CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9db9e0-e8ec-4903-9435-68e7eb716bb9 CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16142f25-082c-44e4-b833-262cc86d218d CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc822cf-3791-4f61-9c8c-a658b523874d CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66f6569b-8e1a-423a-8ada-cd3c67347279 CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02cb855-111d-43fe-9241-ed0ad0ed99e4 CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6113cc81-bb02-48de-be06-906c23ac894c CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45978196-ea95-4b2b-9a98-c2a0a1321742 CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 492c2447-0597-4767-a3bc-02dbfb0553f1 CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a97785-a341-4a63-83d9-e86497eb8628 CLINVAR:425864 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 844be501-eb3a-41c7-87b9-a49186ca3a83 CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8530e9e-c938-43a2-adf1-3fe4f17b213b CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8db4acd-f6b0-4174-ba08-a74df2aeff9f CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6ca18c-8478-4064-958f-6cf1ded58623 CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b85b61f-8561-437d-bb21-0636fca05eee CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedffc7a-b5e8-4bd0-8af5-453a423f3ae9 CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc760ea1-e61e-4a67-9d3e-1c0ca043f2fd CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d77b9164-3328-422f-a4a8-c1fafaa5b442 CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76fad029-01d8-48dd-80fe-b6fa9626e593 CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15f5830-498a-4daa-82b6-9e3cf3f2040b CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7751f546-cdab-4c4c-8c04-7192978396cb CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4d7372-aa43-4d6b-ac40-fe49d10175fe CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d96c4f5b-439a-4505-a77e-84d7dc6b297d CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b2ae62-9c5b-413d-a104-3aeef01357ae CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0404557f-33dd-474d-8e2b-45cc01f02158 CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a902149-4db3-48cb-bed8-fecf29ba11ef CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a76dffb5-92cc-44bd-9672-0b16a1888c3b CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561f680c-d1d9-4ec4-952b-74271e93b9aa CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09766d6c-3bc8-4512-b4ca-5f5689ea3372 CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940509fd-1af2-445d-a7cf-0a4d74d076fb CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2382c808-81cf-443d-9ba6-ec2731795bdc CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31eead5a-6241-425e-a343-d885d1805e55 CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1d3d66db-9fc7-44ba-9dbc-709ac63bccea CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d0baf3-f049-47cd-8370-fa35d5921c42 CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d7eaac7-d685-47ca-aaf2-52562a0346bc CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b860fe0-e35c-41d8-8722-aa732844d668 CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 565c0608-4740-4d82-80a0-0ee4ca04318b CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff1b9e8-f385-4f1b-9641-7fabab931506 CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e07ee80-4427-4df7-9e89-d238c72a4df8 CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965168ea-6102-4fa0-aa84-d629a3fe603a CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6317d84f-5a4d-4799-b8d1-9830df331a4d CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61bd10b-209b-4424-ae78-5ef674e8c899 CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e249d9b4-6df9-449c-9cc3-0c18048ff9cf CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e040c56-314a-4a6f-a255-674ea962cf8b CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f86787c-e2ee-4e64-8c41-4e16e1a1755e CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef6e1c1-febf-4010-a314-437b273e4a35 CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen efe96781-8578-4fb0-a722-f8fa4cdf795d CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ca947b-6d0b-4884-acb5-5bb268654c13 CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9a40b29-f52b-42e3-abcd-3d963fba142d CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d5ad62-51a8-4db3-91d9-028597b42e81 CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6273cb7d-da76-45c2-a405-e8b57dc0eb06 CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef95794-4083-4b78-a833-6a2b67bec678 CLINVAR:373089 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63af949d-b38d-4154-a883-7600f1c04385 CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6938dc76-2270-4e35-8346-2a009ff27c6c CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c77fbf58-90cf-48f7-91b8-3c7900164b97 CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de587ef1-6715-4b59-8bd8-7f6aee7b61b4 CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7be41c57-d010-4b59-a86f-1ab91354a25c CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87971524-e720-4820-b119-f8fb7ab6d132 CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b0cd5f6-5354-48a2-907f-8d1cdfdf43fa CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4eb026-09d9-433d-9a9a-196a09aa02fa CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2073956d-b2d5-4f12-914a-9405fd9cb1c3 CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7127a87e-c8c8-4fa2-a435-4ba7eba2695c CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72ceafbf-785d-4dd7-8b33-11e040102163 CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd2c31b-e4ee-4cfc-809c-2a3f27a38ceb CLINVAR:2021682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5e9f29e-d466-4403-a730-570516dc2678 CLINVAR:2021682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0d9a8a-8e18-4f0c-bdf1-5a3c6c996386 CLINVAR:1556993 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09326ffb-cd29-4d66-8afd-65bbedb04ef8 CLINVAR:1556993 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ed93fc-556b-4e00-b5cd-75e5e64a8d81 CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52257ba7-fb19-49e6-bbb6-22bdaa48677a CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075cfc95-c22e-4a31-adc2-aa3dcf8b1ffd CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 879c1ed1-aca2-48b3-b074-55f0dd3d9760 CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b891730-3449-4be0-a856-a8a49f4319b0 CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86f8b865-fe6d-49d0-a023-c1bc5ee8b239 CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40072cf8-7f31-4a4a-9296-aa543383709e CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4649ef5-0eff-4953-8bef-432aec2ab040 CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e50ab92-9eac-494e-9bca-bf56c79f8a0d CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9ce6329-1ef2-4c4c-98d4-a6a7d9cac34c CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c35ae7-f85d-4a5a-9280-6fa4030ea906 CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b46bbfbb-34e4-491a-9309-748b469b56fc CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57904a8e-c7ea-4341-8524-4c5d19029812 CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8bc0b0a-b28a-4e36-8593-b4c4ed788334 CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e4709b-e42e-4625-9015-127764085a86 CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdab036d-3b91-40fc-8968-2c07a606d9b5 CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88e8fe3c-e29d-4054-9766-7ef966ab112c CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e036eae8-f687-4af3-8131-1f0cf34a305d CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04770b75-8e48-4660-adb4-0bbf2c66798e CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 785c4337-b2de-46ad-bd4d-54d743801f5a CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd1bc8b-31da-4b98-858b-b28ec5e326ea CLINVAR:1552198 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a38ae5bd-7d25-41f0-b785-38f147c77314 CLINVAR:1552198 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d2d35f-0783-4b1e-b783-62462b7a7d86 CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94244f20-ebdc-415c-bc8e-96414a0d92af CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cfdb37-cb3d-4f40-907c-87561494f476 CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fc280db-5d85-40db-b633-c0920d400626 CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4a810ea-56f2-4bb2-9317-de1b7d062fce CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5839d4cd-0432-4e1b-84e4-a9103491e7e3 CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3e6426-a44f-454a-a6b3-7f1293a04baf CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28b8d938-ca16-47ac-9b16-51a7f43a5378 CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52352f36-eb89-45e3-be06-6ae3d74d9c5f CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b385b4ac-1adf-4c6c-a01b-e53c0bb3a37c CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e4cb62-98a6-4e5f-bed1-b7fba896eabd CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa94a5a8-ffd2-4d28-8ce8-c764e85919f0 CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f854ae12-097f-4300-9e99-3b1d15c8601e CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac29ea68-fccc-4d35-b57a-d2be8a1a0fc4 CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fee4401-7cee-41f5-8973-99aa04d04588 CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0076c2fb-cb92-47b5-86d3-6eb4b1be351b CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65e6b92-51d6-40da-bab9-536fdcf72405 CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9e773e9-e39f-4b6a-8f06-69698d213aee CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff4893f-6731-4d7e-8f02-b58301facbb7 CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 675ce25f-3165-4f5e-a472-f2d74024aef5 CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42704718-b7a0-49d0-965e-88e034542f46 CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e55e4b39-6a23-4f60-b7bb-a4d36de731e3 CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd28f680-7e74-475f-95dc-5b62582dec54 CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78100c0b-6155-4173-b3da-2b421a80f423 CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f7dcc6-2c12-4aa3-b82e-edbf1065f0d2 CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77dd1a46-0b46-4eee-b360-aead89b0fc7c CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5f6414-db17-4ff4-9e0a-24d073546108 CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 885aad0d-ef83-44fd-9c49-8e8875212015 CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02cb35c-5977-4615-aec8-c90516461b88 CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 691e5192-7c3d-4d43-b5d6-37ae62ba7352 CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0231ab5b-560f-48ca-9f78-a16acefe9af9 CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2924902-2326-40af-948f-0cf46e1e7417 CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecddb735-bf90-4061-b73f-320ee753ade6 CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 744a4e70-477c-4624-a7ab-33797044d4ca CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d294ffc-2e9c-4d52-ac01-85dff411c724 CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4f20834-2811-44ac-a2ce-648f775fded3 CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70038b1f-09ce-463a-a474-030492ab4a74 CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bdbffc2-ca1d-4517-8fd4-7782d861bf39 CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ec984b-8833-493b-a901-0fe7074d81ef CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75bc9ad1-8851-4e5d-b324-103b5f711eb0 CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d190aa1-576d-43f0-ad76-073a7c024bc3 CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2570278d-2105-4940-8bba-15bc9c7bd84b CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b8de01-a448-48fc-9c69-d25a61d5f4d4 CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1f4a766-57ea-476c-a3e7-1193a928567b CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c697df96-bfbf-4464-a487-6b56ded300cd CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03d0116d-3e2a-4d8f-9d2e-67225c5aeb2a CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d70c008-8114-4eb6-a576-b5127c2bb395 CLINVAR:1351602 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9c1ca3a-76e2-42ea-88cd-2120e9ccc2dd CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a48db1d-e361-4503-b35c-689fa6e363d5 CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d01dcf6d-3655-4551-9b8a-15f103252326 CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb62ba2-a036-4a9a-bebc-c41620583191 CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ae93582-1239-465c-a812-ce012b25d595 CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f35fdcd5-3743-45ec-8604-249495a1595f CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc627e83-b25d-4d71-b6ea-2ea9ed9cf3e3 CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 292fa361-3e6f-49fb-9edf-200d46358515 CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47f36f89-f7c0-44d6-b269-0d12ee43fe73 CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dcc0f41-02de-444f-a83f-23ea80f901ba CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cd0c20f-ade3-4a0f-985f-5bd4782dcc1f CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdbe9c75-0a30-465f-9a1e-53607e9957a5 CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6161546a-0932-4af5-9217-c5b07199d7e8 CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe8c1bd1-7473-4d3c-b6f4-38513ea4181b CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cabfdf7-64bb-4d3a-9d2e-c667151f1b17 CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9308bcb-1025-42cd-88a4-f6f0ebf8de73 CLINVAR:1642471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39256320-2a1c-43f5-859f-796eef7c75bc CLINVAR:1642471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae256c4-9d4a-4e54-a708-4f62bfa53228 CLINVAR:1592483 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 233bcf74-02dc-4111-bfe2-dfc0c8c6e6cd CLINVAR:1592483 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843c8ada-c82a-4c3f-831e-428af6beebbd CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e15c1c4b-2094-448f-aae4-2e1b3e276793 CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eefc345-c514-46d0-b9c6-1ed777fcf52f CLINVAR:1546102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 298b3510-d481-48e6-bfae-fcd50709cb22 CLINVAR:1546102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba8cee7-6ce2-4ed9-8824-d5175e75a7a2 CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1a02b1c-f5f4-46f7-8e8c-ba38d9de260e CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1215885d-8f4d-4990-b258-3be1585f5a46 CLINVAR:2090169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31cabc0c-3dcf-4165-8b60-c8043868c6f4 CLINVAR:2090169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab63763-5ec0-449c-bdb8-674c46bcf356 CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbb3f1c8-4516-4794-a451-d9476b54c9a5 CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282ffe4f-f519-4434-bfb5-e10bcadb4632 CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d158f63-88c0-45d1-9038-af75582d6c7e CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dadf3866-608d-4266-bc1e-2941e14545cb CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bf3d2b5-f181-454c-a338-0963fb8c114f CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 239f8ac4-e45e-43ba-ac52-9ecb6c974032 CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 722c5fc7-304a-42a8-9390-94a435b1a47d CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8eef9b6-a594-4467-8b7e-f53725913469 CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82c425f0-7251-4840-801d-d6e6b1cd6b0c CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21166a5c-cac8-425b-8d59-c726608432c0 CLINVAR:1701951 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e9fd667-b3b4-4d11-8180-1080049077fe CLINVAR:1701951 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4f2b90-1a62-4dff-a038-197384e21e35 CLINVAR:1587386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8911d440-9675-4012-b36f-36aed32f33e7 CLINVAR:1587386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57842399-3ad8-4613-9ba6-5d9599a4b81c CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d435248-3a92-465b-91a9-2ada1f22aaf4 CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f3353b0-8b72-4eee-a551-09583d338ff4 CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 917cee99-ca16-4963-94f3-66146b721cb5 CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d2ac44a-cc57-46a7-852c-3ae0a52f9836 CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2226e70c-65d7-4c91-83c5-c85430382c24 CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb7c1cc-2c56-49d9-b501-17aa45af54b3 CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14ce2e81-4404-487f-aa05-2d2fa80dfcde CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a5d2a5-da1c-4fa4-92e4-c3cc496547e6 CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8436bcd1-b52b-43f7-bad8-c9a4e3c56532 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed2cf5db-4982-42e7-8fb2-7a1a0f8fac1a CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 869131bc-a378-4ab2-afed-b23c23914f01 CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c74659f-34d4-434a-8a14-7c93401049fd CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15142c83-ae25-46ce-8a6a-a36797103123 CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0fff02e-6052-4012-83ba-a9a695489bae CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fe86746-dca6-43b1-9bd1-63e4da493d56 CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fda271f-a710-44e9-93fc-6c68d30b881f CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbca6ba0-397f-4a68-b153-2b8b36bdf5dd CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573b3d15-894a-4315-96ad-b1748d6bf44f CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3480e0ec-5e53-457a-a1cb-5cd4fb2362ce CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c93ebf-a437-4964-9acd-7ca12227dda0 CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d837ccd-c46e-4eb4-b9d4-c7f706c750e9 CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b199a4a-40a0-40ad-954f-b326367df93b CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a13d7bb-9be0-421a-aced-9b88515fc220 CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a30f2728-fb89-4421-ae74-0451f149137a CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35c1eff4-21c3-405a-b2c0-7e582b4f1528 CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8a1f77-395f-4582-b188-54e14e11e18b CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1e4c7bf-05b8-422e-a737-a453d16b894e CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ef36046-7e83-404d-a7f1-bc22dd899ebc CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1773b7e-2b65-45a1-9372-62227f092c05 CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9356ef3a-f29d-4580-a82d-a514f28e79e6 CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 497ac94c-eb61-4160-98be-634a84531cc8 CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724eaceb-306b-4bf4-9900-110325eaef21 CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22fb0120-2b08-4ecf-a425-28589699420a CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6ec846-3a69-4758-8442-18c009006e28 CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab0228ff-0a66-4efb-9d38-ac015c78c81d CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc30bf80-fb57-4da5-89c1-a29196eb2ce8 CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f751c1e9-bfe7-41d3-afe2-3d8fecba0d11 CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a8b19a4-a9d8-4a94-a01d-8e5033b9d75c CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23733444-5f25-40d2-ad5d-30d8947103ee CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf0af29-cabd-4c31-ab88-2fa9d52dc581 CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1eea50b-88d6-4d56-9c07-76bfc8b9a554 CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c24ced-fd5a-4065-be97-b068cc6c092a CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 272f7c5f-f132-4c79-945f-cd7ef4ad31f3 CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e99e3b-3462-42d3-abb0-bd78ee546167 CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 729830ea-0de2-45c7-9197-abb76294e1ec CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b910d4d1-a076-4216-8bdb-b1b2f0cec2af CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c73624a-76ca-4e2f-b141-a568e2497e16 CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc4295a4-c492-4fbe-bc49-2d580975fb79 CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e250a1b9-28b6-46d6-9098-694de3cbaf42 CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0477c937-52ec-458c-a614-fff6fdd72053 CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b0559fc-67f6-41ec-b800-9cd9528824a7 CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1074db-d98c-419d-9180-8b07f1d63fe0 CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8982692-5c99-48dd-b05c-8e1d8fc142b3 CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3209e3f-60c8-44a6-8d4f-8280fdfa337a CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 271fa9e4-a079-4583-8895-dba361a93bbe CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f843ad8f-95ea-481d-9931-66a9c413fe6b CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98a76967-e0b9-4f61-9ff9-40cbfe8b19e5 CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d91eecfe-443a-4b6f-9255-9da8a29f34f7 CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4dfd85d-6eda-4631-bae2-a6b930867df1 CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d4d5ff-5db7-46c0-b992-8cd82f01f87c CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05ecb6d3-e207-4854-9069-c46ecb8bcd27 CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16e201a-774d-49a3-b670-d961dc47f43e CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1270351e-23bc-4d04-8761-9bcb17046cbd CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b2cb80-e28f-4ba1-865e-01d48a3fe356 CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba1a48a8-056f-4f2d-bf1d-f551f18d44b2 CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f183fe-a4cb-4b21-a5a1-4ae880d70841 CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfeed321-c515-4a43-8e79-d272a3208b72 CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 642bba34-1f91-4f09-ad28-80d768e66744 CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39acbe89-b1cb-4f4a-8282-aa0cdffa9305 CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8697add-c091-454b-b65a-3ba9b2caf9a7 CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70118160-e21a-4896-a1f8-9b03fa9e1ddc CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91bbbd10-eea6-4cc2-946b-14fb77098efb CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e88cb913-2a94-48f7-ab9d-d680e1cdb153 CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b71b671-7e83-405e-9aea-4a4470041fe5 CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fd7e7cc-a62a-41ec-a43d-71870de5ecbe CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ccb730-85b9-4f90-a0c4-1f012722663b CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1694ffab-6ac4-41dd-9d11-215712fe918f CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1b6032-699f-4b11-8261-e07fad8f5f10 CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62b32734-cc1f-4cb5-b7bd-2f9c229d15a4 CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad12845a-6069-440c-bd01-286178659695 CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d95f4b36-bb9f-4c8c-b2da-9a5c3af5f22e CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b52b65-883c-4a20-9787-3e646c6a3584 CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca1fe2cb-3054-40a1-a47d-347c71f9e588 CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9da37b-0bfa-4dbc-a5ec-77b0aa48c09e CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e73b73d-d15f-4f18-abe3-64622f50b87b CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87482769-25bb-4655-b0e3-c8298944b04c CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13a40bc6-96ef-4ff4-9e24-600d7edfdf75 CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0e1b39-cf29-4c4b-b753-d7342d2c0bc6 CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0720ad38-327a-45de-a471-16778bdf8c97 CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d6fab8-4107-4185-834d-3c42513fa3df CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7faf3c87-2f29-4f5b-a337-31c82f7f304c CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff6ceee-0c20-4986-90cc-38e27dcd6c3c CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eff03da9-c965-4567-8a84-eef3e3dac956 CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc948286-b2d9-48e7-b232-213f2d42b4cd CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf917e4a-dfd0-4b24-b954-1d76db475185 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa11cd4-3b52-4011-bc49-d9accc28129a CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e919380f-f04b-40f0-a632-cd885f534f3d CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84a7c99-5639-4ff9-bfca-d172a0a4b967 CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b94d30d9-b0b5-4099-8305-708f38978e78 CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95f232ec-fa18-484b-8368-fa3f8bc20678 CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c56259bf-9fff-4741-8ff2-fadc17836036 CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2821a0d-1947-4a97-aa83-3976ef10b796 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a063771-966c-47c6-847e-9140d24e4b53 CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8762740-90b8-4448-bf59-96d05f1e681e CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44578897-ba69-4424-8bd5-cd573f50465e CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a688f346-7eb7-4e5f-8c5a-9bebf39fbc54 CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f8b13e1-3e06-4c4b-869e-513086d845da CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3c4cf23-da0e-487e-bb35-3b30c35a8896 CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 202bb7de-c541-408b-af1a-5cf0fb98c1bc CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bead7e-960d-4296-b83d-0304bcb67f9e CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cd35ea8-2230-450a-a35e-b0a4fa633f53 CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031d3b68-4ed9-49db-866b-d6ea45f0dffa CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38844c13-31de-4045-b472-ed1c6029cf54 CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a32b1c22-2d3b-4358-a5a9-e778e7c6ba94 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a07dbc9e-bdd7-4188-9747-3d3856db3898 CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f259e1a6-d38d-444b-b6d4-e2843d8a0063 CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f016bc2-c8ce-425b-8e0c-5f0c15f89088 CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bbfeb9a-d9b6-4b49-9750-0f11dab725f6 CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91b88c0e-7504-44c8-8f93-e1a223c2cf00 CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c21652-ca8e-45d9-90e8-af3fcd2a82bb CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abfa22c2-d235-4805-8fef-e5ee1d1f2d1a CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694b0488-f65f-43d4-9305-49f4d40e016b CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f575f083-7e47-424b-8af9-85230af9fc12 CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c333daa7-6c09-4d8c-b82b-5eb1e8d73cb0 CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e625179-0861-49ef-9837-b25890811e9d CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e352c7ad-b85b-4cd0-a1da-8cfdd9ab2836 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dce26421-41ef-4e76-84dc-63191afd17c2 CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1d3003e-048d-4394-9fec-7bc5a6b78eda CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6bbe5846-5436-4e8f-920b-a14b3d5a04aa CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f21a6fc4-f59f-4c03-a334-e2c02ddcd40c CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97e84e44-a150-4267-83e1-61923c6419b7 CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70bd3730-3f9c-4dd2-bcfa-38ea62832616 CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97765dba-23bd-4bfc-83e4-6dcaeddc7137 CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019c3eb2-e12d-49a0-a181-47dd23957e54 CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76083142-46f6-4553-ba3b-520083496791 CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2be35a34-54ac-435f-b743-bb62324c13a6 CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7150285f-2b1f-470e-a9e4-4366c415e2ca CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 625e9cd1-71fc-4f31-99de-605277378183 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b2315f-566b-4171-a015-973f193be2e0 CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ce88760-d9d5-426a-8050-73d8e0e020ea CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44f47e0-74d6-445e-a0c1-d548fca14372 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c45ea79a-1e8d-47f7-9add-ba889a86f8c5 CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 427e0102-272f-4c8f-bb00-d20c93d51cda CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64f0e48f-589e-46e3-b62e-c6bbc27b394e CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2a0037-868f-4d58-8ea8-39ac13c3fd18 CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f465819-6af6-4769-bd8f-c962d21c075a CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe97a90-08b5-469c-8ace-0d66b15c6ec6 CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4814ec97-7f8f-4ad7-8be6-cba6dc4d52e2 CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e72d06-03d6-4927-8896-28eef83aa8f0 CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93975bf0-a1ab-4eab-902c-05465e82da74 CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc51ee8-cd53-42de-bb27-c5ecdc008aa9 CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e2ed768-4469-4bc5-a39a-19b365d3aa5e CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f0b8a5-778c-4da8-808c-e21177b26b89 CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9022a9be-417a-4a0f-9ee0-4a93bb032377 CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9fcc08d-9527-4c9c-a274-b7239bbe843e CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac04a029-2256-484d-9dfa-7cdce4e1a59b CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c5e266-3726-48d1-b2ba-b6bc0bedc996 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 594e9f96-0c85-4183-99eb-7eb4da1b87cb CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592a41ea-eb93-49a6-b1d2-5117004fe0bc CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb94804b-3700-4c4c-ab49-480904f79908 CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 137bf750-a984-4811-a3fc-25e181eddde8 CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2dd1f3-91e7-40d5-94f8-88ce99ed7181 CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8b0c041-a24b-477e-a085-e68f8c97671f CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64570e9d-4290-48c2-9128-6a676e3cbd0b CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3293daa3-3694-4792-9b83-ba7b7dcc1213 CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e530262-10b8-4fa1-8128-2631cb33bc63 CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94c41139-b4e9-4548-9e96-b4f162b47364 CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e3eb7e-476c-419c-8739-dfe909916a3a CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74e4824f-699e-48fd-85e7-16b01638832f CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a6bf05-e263-4e54-9924-62d63f1cef70 CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39863682-9492-421a-9520-7febe2c02ded CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea5f4761-6b20-49b1-8cc2-48ca788393a4 CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5c772ec-24e4-4009-8637-2f2d053390f1 CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8afe4596-3d48-45d6-9812-403f5e52dacb CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c160944f-d5f7-4c15-aa0a-13c4a808a881 CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ec8250-d1fa-43cc-87a7-2dc2832139bc CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 222ab757-aefb-4c47-90af-721eb379e3d3 CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100c8e31-7b05-4e5a-a935-b1eebf512303 CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0e6da40-bced-4c6f-adbf-f20b54f25055 CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061f9f95-4bc0-4d94-8f98-6a68f9d1ece3 CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 104e634a-972f-493d-9832-4410459afcb3 CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141877d3-a5bd-41fd-9187-da53e0339b9b CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f503f4c3-a965-43f2-9600-793315b4d820 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d10900-be83-4ae6-8165-dbdfde91c71b CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a911186c-394e-4cb7-a35c-6ab2527a1d4d CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a620531-7f30-4dab-8cd7-debe3bad231a CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 779fe8c1-4ed7-47c8-9c4f-60bae8a35359 CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ecb66f-3223-44d2-8725-49da191e4e6f CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebe5eb55-4425-41f9-bc19-b636c2a7abbb CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431eb5af-d771-4004-b062-14567d8d35dd CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9c3139c-3339-42eb-ad79-b32e87ed414d CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a78329-24b6-4e72-84d6-dd5fc1c080bf CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ef7164c-99f1-49bf-9aa1-e06709c294ca CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbdb412b-f636-4d62-b763-a459074858a8 CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c32f90a7-0fa9-47c6-8cac-8a974224705a CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acbbfbd0-dd31-45d7-ab99-d632ce5cdb16 CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 332f28a1-d226-45f0-8be2-83b7d1ddf695 CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606e07e2-5960-46bc-b1b9-9769807454f5 CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80eff5fd-9b1d-46b7-8ef7-c811fdd8a891 CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d14ea25-23f3-4e39-98b9-4b83d4e3e206 CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23849449-75fc-4aab-9774-442a147091f6 CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473ec3d4-6279-44d6-8782-43c255f32320 CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46e910f4-b56c-4e29-ae19-c23e6c59b7dd CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e857ac9-6da7-4e08-b268-7f5d37c974d1 CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff639f2d-da52-4a40-9256-c9d00277f845 CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7f55b9-fd7f-4b33-b055-32d5685a4049 CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cbf19b4-b835-4ad7-9d62-9d9361a7b8c8 CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cd1b5a-04f9-495c-8d64-accfe4f2c371 CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dd7f032-a5ef-46d3-aa44-cfd9ef40115d CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5529424-ee4e-48f8-87aa-6e8066c7d609 CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c42e9779-25cf-4389-a2c9-3b21c8994c31 CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f923c56-4f31-42d1-9d02-8870be26e300 CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e0b4ce6-4ede-438b-935d-9007e201155f CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1e4b73-fa50-476e-b8b8-43e45ba3754a CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b32e7f9-b90f-46d5-87c8-0da219b5e270 CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e815f2e-6752-4416-a5a6-abff96d13e2b CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f01cc49a-32f2-4d53-9587-c12b97cd32e4 CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2473584-0897-4537-952f-a2ccf081f6b1 CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea41f5c7-93f7-452b-b36d-a85c6ade1f09 CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ef9f78-d7cb-4be4-9cad-ab3402d9cdca CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7618ffb-be98-490b-aee8-319434fa1499 CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdc929f1-c5e3-4673-8d44-166db6c6a246 CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae2f31da-5e85-42b2-9ea6-98242027a925 CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ef4903-c7ba-45a0-aba1-4b32e0467e52 CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e637168-d973-4d93-a817-0feef00bbf7f CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b6a79e-9389-4035-8c8d-5e0d7d3d1ceb CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7a5ea5ac-6e82-426d-a4d6-afd96d009927 CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c906398-93c0-4261-b181-481ea52fa52c CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc74c49f-beed-4c05-b5c3-b5f6aa077c05 CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf22d8e-2b8b-4483-a2b7-4ed86d17d091 CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af7d7d9b-d007-4edf-bae8-1ebe06abfd73 CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62578db-0114-46b7-9611-ccc68aea2408 CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41934858-a3d5-494a-9d90-bcaff32f161d CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57985d7-f4f4-4bd0-841d-ab18317a4c4e CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a1ca2df-c673-4c28-b718-95fb99bdb794 CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7deae1ab-73b2-44d1-ad2d-3bd250e73001 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03be3134-7248-40ab-b370-8831ffbecc63 CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a788c6-21fc-48b7-8e3e-fe63f452d560 CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e31ced8-a31d-4771-a424-ee23ff9d1e64 CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea223dd7-8072-4018-9cb4-8c4b49b7070d CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89add559-5a19-45f9-ad0a-ceb9fbf6e430 CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 39f3623a-a0f9-4ce0-a9c5-9aaaa03110c7 CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4256fc-f505-41d6-83e7-c3c2e999ed61 CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff37be55-37b1-49bd-bece-f9af406d2e9e CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 124230ec-f1cd-4aff-846f-5b176fa9c5ed CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b62660c-8fe1-4951-8bfb-25c6881c5926 CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdbfa02d-4ca5-42c7-9782-7499e83cee14 CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 531ab957-10f6-4c27-aef7-b9e564191d7c CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a758a1-fc82-4e6d-acc3-96f87321da88 CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 479efb20-b54a-4d69-82bc-b2cf09198f7f CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f61d4a3d-1048-4d0e-a6af-93b14b4bf9bf CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c49ea1fd-e5b0-40c4-81fe-01a27cdc8700 CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e626469c-f3ce-4d71-8dec-bf610abea875 CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de2b04e8-509f-4728-ae4f-43bbb658a467 CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674c050e-2b05-442a-a74b-468ee6fa07ef CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 160b5f1f-3c3a-45df-809b-89a0e2ef5520 CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0132c470-16bc-4aa2-895b-540d3615d97c CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 200de5af-d12a-4de7-9762-f9a52e2a9c89 CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0707da3f-e5ab-4fe2-a4a1-d10135f75169 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen acba6b0c-d5cc-46cb-8e13-6a3cdfb1c6da CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35a40e2-3e31-4d7f-bd9a-cb110df887fa CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f967eefd-5ffe-4639-a5ff-56a6025ea035 CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc21767-b41e-4e59-883d-b773bb8fe49f CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6ec8b1c-4f32-4f99-8907-cf10ec193316 CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1f6f96-3ea5-4039-a675-457317158595 CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cda5858-dd1a-4e18-8d9b-8eb4dafe6fe8 CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c706100-a033-4b1f-a250-be5b70f033da CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f98d3fe-3d51-4e2a-8cc5-a70c89a1421f CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b41e245-b7d0-4eae-a986-31f6f428265e CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fd494ca-dc18-4162-851c-f8b96e1f2797 CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc15f85d-a5cf-4e50-b100-d8dc8d0cf4ab CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ea88d67-3e23-475a-8c2c-ff1138754ba7 CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42fc92c6-2c1a-4eca-8df2-802dd3200c09 CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 229b65d6-59b2-45b2-b19c-8421fabd6a41 CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79245f81-5e64-4f8a-ba4b-a6d0568ae2ca CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7c73686-6052-4af1-91d7-d5a0d4c25a09 CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21c4b07-93bd-4621-9c6d-d50c9869bf1c CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff629b1a-5efc-4629-8e7f-597814170b2d CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 775f4058-ccc2-4276-ac6e-592fe6fdc8c5 CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a3de19a-dd55-4499-a9db-9ceb1650d658 CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3188628a-2222-431a-b65a-fb9f108d1fa4 CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c2b2f11-d972-4c8c-a8e0-9d107158f295 CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54afe4a0-11d3-4e79-94ad-68e122c9d4c3 CLINVAR:91361 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09c586f4-ff5d-4b93-a4ec-5997b1ba8f86 CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecccd23e-93e0-4f09-b516-c17aa22a59bf CLINVAR:91313 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5b30b39-df93-4dee-b524-bbea56f1a4d6 CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1acbc19c-9eb9-457d-921c-e3ea8938b92c CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cd398db-be0c-4483-9069-d683b88627e0 CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fdddb0-9c8e-4143-adff-4700e86e9742 CLINVAR:480313 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c726b989-143d-409f-bf1c-d9cc663ef002 CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd088b8-e0fc-41a8-8034-be50a9280ecf CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 393b0ed3-6ca2-4bd9-8a06-690599a13392 CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 445f9fd9-a0a9-45fa-a21b-01f915f84d37 CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b15fe4e1-a589-468c-b790-dc81404146b6 CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec86a6b-f716-4c9c-a9e0-285dc312d388 CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7472389-1f44-48d3-9e54-3c4b043c5982 CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120dc073-adcc-4528-8324-ad824de2772b CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c866441e-3836-4fd2-ada6-1ed745978c2f CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc3fc0e-78e6-41bc-b6ae-99a76195e683 CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8eefea1-b458-49da-b492-de68d95f7d59 CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7bf671e-4b8c-4e0d-bcda-a4b5ba434576 CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b8bef81-d012-451a-9dcb-e7d742f6e634 CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd4b43d-fe68-4471-91d5-f941110ac0fc CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c52fc1b-1970-4cb0-aefb-9780f0ad95bf CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 063baec9-da5a-49d6-8869-72b255327c49 CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 592a3554-a5db-4da1-a4f2-18de68da6e39 CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d41ae8e-28f1-4f5c-a07c-b6c3e59a67dd CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bd75d53-1f52-41d6-8e26-bfa0152f8171 CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3075b26f-f1c1-409c-8d8e-2041db3a7d42 CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d12ba05-c8ca-4e21-93ee-86716d3479d7 CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15042faf-be4c-4229-a8eb-1cb8574dd5e5 CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e2866be-bc04-42d8-a857-3b8e83fc09c2 CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82083482-d654-40a6-af89-9e7a0fb1df2b CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6433bc6d-5460-447d-b579-d0742aa86bae CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de04a878-9d80-4318-9477-1de103275b4e CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d254b3d-ff94-4db0-8c8e-34ae0b210c8c CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439fd4ff-0003-4ba0-b89c-9bf9827249ab CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d2927be-c45a-42e2-94fb-6ae5eb70269c CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb60a01f-92b6-41cf-81c5-a4de1a38e32d CA2261365225 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3177e2a1-930d-4240-ada2-fe138324ed65 CA2261365225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93280851-4e5e-4e12-97ef-595da7410e49 CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cd5d1f0-c5d6-40cc-8128-ff1f350e5f4b CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f6cf2e4-8062-48be-ae85-8262d995671d CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5239cb17-a465-4c69-bc9e-90b131447304 CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d90734e-eb56-4665-ab3c-c9f6e48f149d CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a3d7747-c734-447a-b328-8d69ee92baf5 CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f925d21d-8406-4428-a331-3ed157889f04 CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53361f60-d37a-4c0b-87ad-0f46067e119a CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d623729-c66d-491f-95fe-c800f1b25628 CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32dc9aa7-3ede-4f75-92fb-4de12239dd7e CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0263b6-7cb1-4b33-8f12-9251a397fac8 CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e161c17-eda4-4db5-9e46-28c93df2d965 CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca0abe9-ea77-4214-8369-f90e192febf8 CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c9b14be-fdfb-4bf6-860c-0445743b173c CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32baa941-4ece-4ad7-a47c-0d2aecc27615 CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34516ac2-c33c-4986-9f32-0e2da796088f CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0702ef0-a756-443d-9d67-63ee2c6bbfdd CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a593969b-2229-4cc3-8233-425c9c03a2ce CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3820bce3-f7a1-48a1-87bf-12b2d25e004c CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 079befe2-a1fb-408c-a44e-ef30c4e339c0 CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ff613b-5702-45f5-a310-74f3d1c3c581 CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff4d3402-80c3-4ec9-8e80-ca458ceb0f10 CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892f0065-d92d-41e5-8405-dbdd46624b53 CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16069199-28bc-4be8-b30f-e1b551665eae CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5658029-5ab6-4785-b83a-b3587cc885de CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea4ac535-3a86-4db1-8c45-d727313c29ec CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433abd47-f6f9-4247-ad97-003a94c86ea8 CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 749d9dea-552c-4e2c-9a7b-06f0c6da6c97 CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791d2fcc-327c-44e4-b78b-9e4d0405a590 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b2ade5e-5a70-4cf0-b5bc-27d72b5d87c5 CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b28fa34-3867-47e3-9898-c70db44ad825 CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbed823d-cf93-4993-9d2b-52b599f92a02 CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 812815ac-536f-4a1c-a132-aec5427ec32d CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81c1a0fd-2287-4883-9f68-4ffb38438e59 CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fcefaaa-4c59-40f3-b029-c575cb621f26 CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bf23d12-87c9-40aa-830f-a939fdb69c7e CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7329b70e-4d62-4045-a32e-a3f296c59afd CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9498d8da-aaa5-4635-abcf-6793477a5b95 CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65887362-a230-4373-937f-902143237d67 CLINVAR:288963 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f67024c6-e87e-4d60-a72d-9b457cf3945c CLINVAR:288963 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bf4239-461d-49b7-b932-029942a104af CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c96775aa-70bb-4e42-a3e3-d94e545f18e1 CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76075965-c6e6-4fea-92fc-078b05bd3638 CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42d51d95-d291-4a4e-85be-93084c1c7e15 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5f9a4f-3502-4477-a5e7-a82e86aa10bc CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90d9b93c-c414-4d7f-aa8e-b6c06596c963 CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8a1b4d-e2ae-45ec-b398-e4bf7af56fc9 CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3268143b-b5b6-4552-9dba-d9b59d23c36d CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db4d176-5dac-41cb-9f18-1d81f11b16d6 CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c285c8ce-2cd2-4f73-8597-44a0f2969a11 CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1842d1aa-9014-4703-b30d-2589d141d23d CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45556f71-abf6-4420-913f-fcaec8e1ca05 CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97fd0329-244c-4059-b554-bd553865d342 CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 750b45b7-573c-4587-b25e-d4356de8c2d2 CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54467be9-1f00-42d7-9a8b-5ddf964cca21 CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f0dbfc5-f57a-47ce-af3c-79246cf7254f CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836c3a1f-40b3-422e-bd8d-490756a98a86 CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1865cb37-d350-4c8b-b603-e30bae1e39ae CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12be5a05-a86e-497a-8087-325458f3eddd CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a91f8a4-c61c-451f-8d3e-e5fa92e146c3 CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee86290-8d01-49fe-b495-f2dbd981a090 CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37bfd388-0232-461a-9f91-64c5649ad208 CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f1bd6c-188f-4e4c-a344-fae4b77fb0c6 CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b1de86d-f6f3-4c9d-9d00-5ea78e0f54a5 CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08aa5d3-8b67-4ca9-a6f5-d7d82d9d72d1 CA410202475 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6fc7ca6-869e-48fc-9836-2fbd817a0d8a CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42c4d4c-5496-457d-a67f-39f1618d377c CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5bf34368-f91b-4da4-9296-ae3077468ff0 CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f3c6eb-65ba-412e-b0ac-7c3fbac81886 CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34a21bc5-4299-4cee-9cb9-947aeedde7d5 CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b66347-7e55-46ae-950d-f1117952f54c CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb7d0a86-8ef1-4a96-a77e-a6c6166e8792 CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0a4f53-102e-4f38-a2ee-99a4e46a4801 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b3b4154-c1c2-474b-9c4a-e8b7a435e0e3 CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe361565-d610-4f88-bdb5-b2b1ad1a6b4c CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b343e701-55b3-4780-a0a4-abb69eb11121 CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d7d38d-75b9-48e6-869e-8ee2abe192b9 CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88fcbfa5-7364-4b02-8402-4f7e6db29f6a CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc61262-ddeb-4ac2-92d7-b3a5bd29a04d CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 168d1512-05dd-4594-b28c-808b57a8bc13 CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c939ac-aedf-48be-b72f-beebb4aa975a CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ace4273-7dcb-4207-ab36-b37146a90dd9 CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f66600-2ae7-4f72-99a3-53cc1f6caacf CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3ac62ae-86b5-4de9-a672-c764d07cfbb6 CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dda5d09-aa4a-4d1b-b179-cb2d809201a5 CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7d92d26-7db2-4865-b1ff-46bb45c3b9b5 CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d04187-e8db-4260-87ae-1a4a4e04dd14 CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c23d6ac-55dc-4fb7-843e-64f235ed0c00 CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f60dcc6-b9fb-4c1b-b1d4-34ca166df0c8 CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33c5dde8-fe65-4e5f-89c8-09df3658ad1c CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa558241-80c2-4e8e-b023-e4192418c1dc CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 166a3acc-7f70-48a9-a2aa-db6d06b49537 CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 396d4fb1-ce1e-41a5-ac11-b094ada321df CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b6f0a82-1d8f-4c88-bda7-62de3762fbe4 CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8301c3a8-e148-4d34-aa11-a85959ea1335 CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 572572ab-f34e-4fc7-9f63-fe7477e7ed70 CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d695b50-c90a-48a9-9245-afbe33d88e51 CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81738090-ff70-4602-9fd3-93e11608ccb9 CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ebe004-2e6c-4ce3-b9bc-3e6f93eb2665 CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b538b009-df79-4a0f-8d91-365ae5ade229 CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02a9ee9-970f-4945-9494-e072d5ee25fe CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a54921a4-4f5a-432c-988e-fc7fdfb263c3 CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01756658-0374-4972-b7bd-c418786ddb1b CLINVAR:1602756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2327f4ab-1585-41b1-8483-d9d2a26a924c CLINVAR:1602756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f6757c-879f-4b96-8b0d-cae90da1812e CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b21d134-311c-4b90-9d4d-57155be54e32 CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1699831-2b86-4ab0-9b02-9a3e0fc0d3de CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da6cfa25-f231-4f13-8071-72aac61dd1e3 CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7e2c9d-3479-46e6-9a6f-817b658ff782 CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d87c8a38-fcc0-4348-8c71-c1d56cf20e32 CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6288c762-d115-4165-81b5-0bd5c116315b CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6273bf6-501c-4c5f-98ec-247660bbb3ff CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e59645-e6c2-4dae-8336-44c489f95c45 CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32f286ee-3925-483c-b198-f386838dc5ba CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e35a524-9f9f-4d46-80a8-b4058796bf56 CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 598ed4d9-9440-44ee-a225-b6ed0e008c06 CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af785444-ccf8-47cb-90c4-02de86636226 CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef44853a-971a-43b3-b449-6544c73dab16 CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51011da1-d060-433c-b278-1eef279905a9 CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2100d32f-1f60-4bfe-a6ef-c9e365b14565 CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617a836c-f644-4043-97a4-1e03ea781a30 CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfce0c20-1d93-4bc2-bcfa-417466c390b7 CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1a2cc2-b682-4904-9657-b88082a8c7a5 CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcb3bb2d-f2d8-467c-ba6b-bde1a4c6b3b0 CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 072b650a-3e7d-4beb-ba8e-fab449659607 CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 289db871-7a99-428e-9338-eee822255847 CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e70905c-0052-4fd7-bca5-4b0369b226bc CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea823aad-6fc2-4a87-9f47-a1f4dfe9433f CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d928d3-0e43-4cf3-9950-7a4c199f5a94 CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfb35f72-7169-48cd-b956-da5a112b7db2 CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5ca36c-28e9-4423-bee8-7471d9eb84eb CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1895bb9c-12b4-47e2-97d7-2dc89aa6aa43 CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e49f76-5d64-4525-a6ac-e9e625886917 CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b30f91d-0553-4321-8d55-12593ee605f8 CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a553629-d9dd-4d6e-8186-02117c992756 CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a33a88ba-12f2-4b40-9e06-7758ae3a10ff CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62a2d96-d091-40c9-88a5-d458d6085f13 CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a38c1b7e-34fe-4fcc-9c42-bff3e1467ebd CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e1f40b-4c65-41a4-9c65-efab95bbe5a2 CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a374c7f1-638e-4d2f-8af6-7f6db3498696 CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4a3a7d1-9f7e-4d4a-9f9a-c6bf67e7810f CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09f89b8a-3dbe-40fc-9961-06b65f85b26c CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce060dea-7168-45d5-80cc-b3093b318879 CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b043bc40-6328-4c23-b24e-2145763d4494 CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306213a3-a8ea-43ac-89ee-a34cabdc348a CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca7aef0f-c739-48a7-941c-94b7bfdece6e CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f7417a-2ad7-4f48-9695-c0b40dcd06eb CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73c037dc-d33c-4182-beeb-c10de84510f1 CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395c44a7-27ac-4fce-b333-a8fb6a87608a CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a9c795d-82f4-4543-8097-fa6265564cd9 CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b299c43d-bbc7-4bff-953e-cd5a8a8c7665 CA410203432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f207213b-cc4c-4d9e-8fb1-d097dd5f9e91 CA410203432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9278095e-ed24-44f4-a537-d0ec183f7973 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 284edeee-db5f-4e18-aacb-0ce1ccfc2ee9 CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c0ac4e8-050f-4a25-afd0-8d6226be1f0c CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f86d92b9-4cac-412d-a4b3-1476d56ae0c1 CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 103e6eb4-f112-4818-9bdd-623cef9d1bc8 CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0333b5ad-7c3a-4656-b72f-b7b6eed1fb75 CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913f358c-a2f8-4c3e-b62c-ab3c15208a89 CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf5adcd5-4835-48b4-8d9c-0e9002415ce7 CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cb8a6a-4c99-4787-b140-8907daf6bf12 CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad8a108a-4f03-425e-90ba-72c1a7e6b8a8 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77801f35-cc26-41df-97b6-4a95cacec56a CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8c58505-5835-4549-865a-041e9105cc70 CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2210cb9c-615f-4ac9-82b8-f201255190b2 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfe06640-d385-4a13-b7e9-2a3dbfec80f9 CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1beb0bfc-47ef-4c04-86e4-3fc5ce2e34be CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b782fe69-6c16-43b6-94a8-89081dd7abff CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aaf8b4d-832b-4787-9ead-6cca1eac94cb CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e21119c3-d4e2-450f-9458-7f6e0c3cba00 CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96184666-9bf5-4326-b21c-b0a8b596aeb2 CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 483c89d9-9224-445b-94af-d44806e55224 CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015b397b-f81a-4506-8496-6792c7256367 CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e4bc791-7675-4619-84c6-f8f62fb93433 CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab5cd12-44f2-4690-a0e2-5c31164e2eee CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac3fa975-0a04-4491-82a9-9e76e7837de4 CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846c0611-3410-4669-8b3d-cea3d80df8bd CLINVAR:2814422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec5bb1fe-3432-4c5c-84b2-b0f3568cacd2 CLINVAR:2814422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbe8bae-b545-4d0e-9ab1-a5924b05fbfd CLINVAR:2699087 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e6b068f-3c3a-426e-8d19-40245f2db8ea CLINVAR:2699087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463962da-066f-4d43-8fab-01754fd12296 CLINVAR:2808278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3e5cfca-cbf1-4f16-a576-dd29e49b3dca CLINVAR:2808278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7f8aab-c947-40bb-b0f8-ad1ad1825aab CLINVAR:2814451 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f962d1f-e8c6-48c4-8351-d39ca31815bb CLINVAR:2814451 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b718f0bc-7194-416b-b9f8-e3edead0015b CLINVAR:2879097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2614fe30-05eb-41b5-9783-a820d57f5712 CLINVAR:2879097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a34c4cbc-af5d-4d41-b250-cc613f60c9d6 CLINVAR:2755227 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 523e5d85-5c73-4c05-ac9c-2af0d8e61e94 CLINVAR:2755227 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b468d6a-7c46-4868-b692-fc419fc5f41e CLINVAR:2988050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 447d54ca-8db2-4d73-96a9-cc89c576f27d CLINVAR:2988050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f6467b-080f-4419-b3cd-5e14b62c25d3 CLINVAR:2900640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0496ddd0-abfb-45ce-bdcb-c82a69782996 CLINVAR:2900640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66106a6c-32d8-428b-b780-cb20bbe2d2fa CLINVAR:2755226 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d916c24e-c458-48df-9c73-65559628f047 CLINVAR:2755226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1945954c-1030-4270-8d99-aa73c6a9f1e5 CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b7721a0-77c6-4804-9eab-e4b335f0fea8 CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92eceec-bf71-4ffd-b204-bbbb7588851e CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34ceb892-f3e8-489c-82c9-5fd130a15df2 CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27aa03d3-3a67-4d38-9c26-2a5acd559182 CLINVAR:2751155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b8ddc08-a93b-4e37-ab9c-07066f56dee8 CLINVAR:2751155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2874d468-6c4e-486d-9828-64825b4d9091 CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9efe3f33-97d1-4c15-85b0-3a0f94110d51 CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b24fa2f-77cc-403c-ad49-5758f8e7b8c2 CLINVAR:2834488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8affcb78-0393-4d41-84b8-b17f561ca41f CLINVAR:2834488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6773705-7e2e-496a-9787-82a999ccdefa CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f771062-b4f2-4bfb-b54a-98cce066d8cd CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ae2c2a2-260b-48be-8fa6-a4bb41b994a3 CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9d39725-1083-40c8-b323-997e86799289 CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e036b479-845a-4920-a1a6-e5166581d725 CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f402d815-32f8-49f7-94eb-d94f0dd5e8b4 CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57aac26d-9de7-4c5a-aabf-3c52f5da5beb CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 162923c6-a816-430a-819f-9990bf4111c9 CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c68d330-db5b-4884-97e8-9d5e92eea76d CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6005b65a-328a-4591-b453-1de980b1f2be CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21eb9c5b-1f58-490c-b44d-7076ed0e2517 CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea93d4c4-f331-46d7-bfbc-9c061722ead5 CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d67fbb5-92a3-4d84-8b90-c0ca6a32f092 CLINVAR:1692647 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c759c4e-a131-47bb-902d-2fa0c6b29718 CLINVAR:1692647 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5561ae-bec5-4543-ae4e-9c7d0e9e8317 CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86e7e3aa-a323-4f1f-a2a5-f72a21f4fd78 CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a675f0e-48ce-4907-8b35-fbdac4208af5 CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94466e32-51c9-4a2e-a211-c071bdd0d29c CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e3ebef-0edc-4eed-9a9c-a04b8260e0cb CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c124c4a1-18a0-4b06-86e1-6da9b59cf727 CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32cff68a-53d1-4c4a-a861-4b730413255a CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0be9f71-7380-4349-8063-81ed7b88e85c CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d5ec12-86c4-4091-acfd-da30dcd717b9 CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a788cf47-3025-46a8-b02d-cc72e0510a3c CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0c58a0-5577-4340-8749-b53cf0a18843 CLINVAR:1528554 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b851b3f1-4aa3-45a8-95fe-653b811db29c CLINVAR:1528554 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef31276-c639-40fb-a98a-13953963f945 CLINVAR:1459284 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eee32a18-8da4-497b-91e7-dd9e42cd6d2c CLINVAR:1459284 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee8f5b7-8e76-4693-80cf-90d82db55e11 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e102d267-a87b-4bc7-9772-dcf729fcbde8 CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6893a5cf-151e-4f97-a052-62ab5a183bfb CLINVAR:2013398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55583377-5121-4f53-b7dc-c1107eea3c43 CLINVAR:2013398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3111cfee-9748-4edf-94c7-c7eb18f4704a CLINVAR:1988566 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf21a5f9-0412-4e7e-b5aa-c0f599120461 CLINVAR:1988566 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5932433d-e785-4d9a-840a-11bede7de72f CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bafff87-4661-4b3d-94da-5cc0cd07c76a CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d5ee05-33de-483c-836a-992d398a1a18 CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a506879b-b34e-43f6-b5e0-a084e3bfac2a CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba8edf5-c1f6-4863-aff1-609afe565476 CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3bae9cc-377a-4175-bba2-a8cdc79dbc1a CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3cd11ee-da49-4b5a-846d-0d63b559324a CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef828b84-61c2-4df0-b912-aeca503c6539 CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a58c94-2da8-4a7e-b92a-0fd2898a5c3a CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c1165d8-4e46-4864-a3d7-532e11051fa1 CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9e1402-7055-4ecb-bebf-48c9bb08ce51 CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92b6a57b-99ab-4838-96b1-b05a1be58d37 CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308abc05-5cc6-40b8-9d6b-631d91d9dd6f CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97ed0fc2-db56-4c71-9af0-1c3c473fbce5 CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05751c06-65c2-4444-975d-b6d422d423b1 CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d33f7eb-3baf-4f9d-a167-8adfbf679f86 CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2710fc31-d24c-447b-90e1-e8ea2d1bff7c CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cd16fe0-1cee-449c-bc03-2c9b086edd59 CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f709231-c7e8-4860-9417-5e76b2e8cd2f CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b5c8118-6b41-4bbe-a1a5-f43b14b90c95 CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddb9641-4086-4cc2-ace8-4a7e6320e318 CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1241b709-b8bb-45a5-aa59-b8b88ee82463 CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c10d89-ea87-4ef9-a2d7-4903310e634f CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a445f9e-bbaf-4847-afad-a23059309766 CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1200b365-f9ff-4cd2-85fa-5fccca695c2e CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 370cdbcc-d13e-4dad-9abd-cc285ef0bad4 CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f254eb77-c9ef-45e3-a90f-5169bea2dc25 CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e44c3bc-1617-4a79-8bb2-7f791fe018c8 CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b3bfdcd-5ec6-4d45-8dcd-ff247abc5a6e CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e600d5c3-71a0-4efe-b022-fef5288739f4 CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247cf3c6-a996-4579-aaed-62cec89443c6 CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef89d381-b45f-4a29-9c48-f9afc71e37fc CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4878f5f5-031b-4e49-8637-ba92d2dab86b CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 550c778d-ffb2-4062-bac1-54e64718217c CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4d0807-f380-4f26-be48-a910dd34530c CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e7c3f62-786d-4141-b110-614e5c734777 CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a560b3e1-71f8-4ff5-bf3b-f2a72ea9517a CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 578f09f1-8011-45a3-8666-ad981878b8da CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69343206-63e5-47ce-80b9-5e974d73218f CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d33e310-3e48-406d-a491-d93a295ea7b0 CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92041a8-8be5-443b-b6d6-2d4a85037dd9 CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d93ed570-77b4-40bf-a64f-8ea2edadaeb7 CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89faef01-2c64-430f-a24e-6d8b29f5dbe5 CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97c69c72-9e30-4b0a-bacd-1b3ec6baff74 CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b95ecb-d499-4835-a227-3e55a5819c5c CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f0c945e-1f70-4997-9433-17c84860bec1 CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a8cd9f-cc60-4a48-9be9-52c82d69f416 CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a54347a-c4fc-46a8-bd15-6b48a80e0431 CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf28c51-533e-45dc-8226-e4a46a2f5a45 CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baea272e-ac4d-4586-a0b4-88c534cf041a CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc505a5-fb59-4104-b463-4be89d756a54 CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16dd0e9f-62c0-46a1-a8c1-ce403713975b CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ad78aa-ae28-49a5-a5af-db7f5d996e5d CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9c16701-bf70-4a62-9e1e-f7907ebbd389 CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef2cca7-d25f-454c-8d1a-203cc5a8cc01 CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c98ddc03-6cca-4cc0-acaa-a09fe8d0ee17 CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf8d91e-144d-4d71-9344-975bc64a1ab8 CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c539d10-7cc9-44c9-949e-ed6ec926f39f CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e319be-db4f-4f35-9cc6-23e6afce86ef CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 063d9531-57e1-423e-bd5f-a6136151aa1a CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbc2835-ed34-4629-be40-d1bfd891bc42 CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1c05213-7908-4307-9610-7b26492abfba CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1911ab-803b-4431-96a1-02dbe8ffe88c CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc55941c-5bb1-43b5-b615-77bc39c7093b CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5009a2e0-03e0-4e72-8dd3-8f51cca9ca36 CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fae3a41b-e18e-4748-8615-9d55d9a8e847 CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75f33f96-bce8-4e06-97ef-00734b9a6fb0 CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 113566e8-fddc-40a4-8dd4-14c92b3f1844 CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f096395-8a3b-49f2-abb8-b4027ffe0d35 CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c07dec6-f947-4a49-8b32-09d66d759f14 CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97cd20c-30ed-4ac7-b5e2-1e78adabb805 CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae464ba2-8ba4-4345-9f03-d571594a8a60 CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322d5298-9175-4f0c-a1de-4f6cb792a0c1 CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c5b2805-6dcc-4ea9-a80a-5d71835c35ca CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c93db51-8f60-4f25-9854-d67a0af3cb16 CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23c0d043-b493-45a7-924e-8e55cf98e1f9 CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07bede2a-2e30-4ff4-ac91-15ae487bfd25 CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b47ae05-1b61-45c3-894f-d6f66fabc37f CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432355a5-99ca-48b8-8b7b-685dc37de2bb CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8f14026-feca-4311-bece-3a47a4f478ff CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb8fae9-0798-4b59-a1bf-3ea8097e5e48 CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67908712-b97d-4eb0-939c-09c2cf7fc3b7 CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2916f7e-02b0-40b0-84a3-d5f165630f39 CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6808b5d1-dab1-40c0-9856-33d47c011d77 CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148c6d3b-efe0-4dde-8d07-e057aa7f9ad1 CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e7724b1-eaa4-4de2-9670-0b68868303e5 CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce879e8c-8757-4f4e-8aba-ffca2138ddac CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 779a742c-8755-45f7-b372-e92bd2f7c07a CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53d282e1-4050-4320-be9c-13cad4e0bdc3 CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d7729d0-5195-4925-9f07-ae7ea693e5bf CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5402a3b-f385-45ac-87c0-23af80cd8d33 CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21bff92d-33d0-465b-9c09-e8413944bcf8 CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 292d7d3b-a7f8-43a0-a5a4-d6064890dd72 CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2dfcd91f-f926-499a-a3fd-603930b51029 CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8da98c6-de17-49d3-8882-f421ae997d7d CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d45e56b0-9094-45e4-8ff1-239589f68b07 CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79788608-9679-4837-bfcf-ed85ddcc7123 CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e4d7e27-6732-48cd-ab51-8753681a7e35 CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 553cc84d-9433-4564-ae16-566be4d2a4e8 CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c904a117-7875-4745-8f51-a8f01fd84724 CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e988a301-b159-4c4b-82c5-7b4fb78df210 CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 777bb6f9-7dea-45ba-98b0-f5dbf81ac2ca CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 046a2ec5-e4cb-45b8-87ac-b0101e24301d CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e838e81-39c9-45e4-8b9e-61b6ee166db2 CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1ed3a6-d220-4225-a0f9-dbeed6aa90f0 CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b39f6b4a-6ea2-402d-80d0-9743d7569e9a CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c839f8b-3bd8-4ce4-8bba-072f09129c0e CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f689631-ec53-462b-a55c-570d1f1ba26a CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a2866f-f731-4e47-bebd-e6d28d2fcfff CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 844f7df0-f691-49ab-b6c5-f416a13edaab CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f2bd01-bdf7-4b1f-a414-db989188bee9 CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5735a880-750a-484e-ae9b-f2c7a0404d66 CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b64fef3-a167-4dfc-b87b-4fea97a1d0d6 CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0da13c54-fdc6-4e0f-a4dd-73db68b55633 CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d75fe7e-7720-4b0d-a829-99b97908b476 CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 034cff15-d90a-4690-b260-15b74e648ef1 CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df601b6-0d56-4eaf-a5e9-415e957a1427 CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b99ab57-4562-4b62-ad8a-ce3acff83875 CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc52649-78dd-4327-bdea-f752fac8f858 CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ab4cdc2-f6a9-4ee1-909f-4e0f9cfb5fdc CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d2ac818-5a48-43a7-88b4-f55f97114ea4 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0c211e1-5189-46ed-9f88-e730d814745c CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba840ace-1094-4c9e-8074-1d6cd59d6934 CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fa9f1c3-5e26-411b-81f7-a966e29a3466 CLINVAR:195024 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 790f4642-9807-4570-a61c-e8e69239fee9 CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f661b51e-2e2d-4c1d-869e-1854a71e18da CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d937ad-718b-44f2-897b-aa484c655495 CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe8c8685-f326-4a57-b21f-a2d72e3c22c5 CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738be7e5-30f9-4a35-bfb2-3bcb8cc4378e CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac11b358-fab5-423b-8d74-ac698968a88c CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08974871-2b19-43b6-93d7-8e24fcca63e2 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f32b7ac-71b3-4908-b349-0f475c27f1c7 CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f15abd0-5ca3-4c26-b0a8-230969904ff3 CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb9c7af0-b155-4eac-ac81-64d229d4066c CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023bd726-b05c-49a7-a48a-c0fe67fe9b10 CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 976422b3-de0e-4751-b156-034f830d82f1 CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db80660b-2360-49ba-afb5-286f0aaf26ec CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92d5b63a-08a7-417b-93b2-60bd4d7c27ef CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44fd223-5bd8-4619-8569-f35ff3569ec3 CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41fec143-cd8e-4be3-8d18-7936f730bc9e CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e790725b-8d09-4a0e-81b1-0faa96db1b03 CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac73b49f-cf8c-4bb8-91d9-3b5d209a4c7f CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31cf62ed-b725-48fb-96b4-71cbcdd342f9 CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c35a7c7c-db32-4952-b481-ba0725dffae5 CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 474697c9-a612-474e-992a-dab00b81ec97 CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a779471a-a68a-416d-aead-a25ceb758b49 CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f2fc76a-8b51-454f-9a66-6de80814fff9 CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e57a0c9-0837-4e8e-bce2-3e2b7163083d CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee4d433-9531-4eb5-a2c4-a12633d1853c CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad6c4358-4c6e-4708-8f26-ee7939d7f319 CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb01333-a831-49c8-bacc-d8e87dff1b11 CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a10d1c19-9be7-4673-a8b3-8d6334be0a32 CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75860c58-7ae0-4f39-b733-604b6924c72f CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ba61add-5ebb-4d8f-b834-b3531fe8a0b0 CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b91453f-7f91-4740-9432-6cc65491cc44 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71798067-5788-4541-a20c-ac23d5453879 CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceff21fe-c3a0-4b9d-9cd8-72bb9ac868be CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb68e5ff-3015-48b9-bc8a-2cb7b5b84969 CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbdb882-d0ab-4322-98b6-31a1099c37d8 CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8867dbae-8291-4c23-8eb5-912aabf2ee0a CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c537aa8-2ecc-4ac4-b37b-4a26229bff20 CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9afee612-17ef-4eda-92c9-cdfc20c53e50 CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076e0846-65ed-43db-852a-bd7614449325 CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02611e2b-8bb8-4b42-b2ed-ad03ab189034 CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ebf1ac9-c09a-42f1-8d94-f3733b7ce96d CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdb0938f-9abc-48ee-9bb9-40363ca6d5cd CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb6c192-d752-4fb3-8dda-43ad45155224 CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7119df6-bb53-424c-9b88-4cb2c3718fb4 CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27df690-79af-4fca-8318-c0a9b3df35b2 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ff40e0a-a00f-4e87-97fa-611ebd173272 CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8d022f-4f65-460b-b776-92c49681fcf9 CA367400488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6f250f33-3fdb-45f2-a073-462e2ed40003 CA367400488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc82bbf-4ce8-4b5e-af19-5f27648ae323 CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe3958f6-ceee-4df2-8557-951685f6c4d5 CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a073b9-a138-48ac-ac77-154c345fe1ed CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3bd8e81-724d-4d50-ad25-7b79419c1f66 CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca54a689-6cc0-4bbd-8549-dddce2fd18f3 CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 025eccdd-b0d4-496d-bc34-4fc37a0b2281 CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09757582-72e8-4ac9-a175-29b12d48f69e CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab519ebb-cfa8-4538-a549-2faffe6f5454 CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b7f5c8f-24ec-4d57-81c2-a068874a3a68 CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 196d26d8-d13d-45f6-8fe5-a1c6d42f57c6 CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc1aea4-15c8-49e4-a642-bb0064a00b7a CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92eab928-d03b-48fb-9530-45512feda295 CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5615c341-11e0-43de-8dc7-caeb8fb2ac23 CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e88c040d-3478-4d67-92c0-f3b8b95b4dbf CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920f831f-e74d-4614-b3be-35c4f3cbe906 CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045f7088-bcec-46eb-8be6-2e6d7748fa1d CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a8a90a-aa9d-4627-b2ec-97349febe2c9 CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b9b8798-622a-45c6-8291-bf29c0607597 CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cddaccf-ef91-4abb-81d3-ad452c2c818b CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec32142f-0cdf-4d2f-b917-cfa796cea1b8 CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9114818-60fd-4085-973c-efb3500f7433 CLINVAR:425863 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cbf1fe7-5226-49b6-8069-d1ce46561a55 CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ddefb3-a48a-4ee1-992e-669235c6a620 CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 414931b4-bf66-4e2a-9e3b-81248cae223b CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ce2988-3129-4f6c-9d01-2d69c5eee495 CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b643b0f-7c8d-4488-bbeb-2af8feb82bb7 CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b99d6ce3-b6cf-47a6-a13d-cce334bb9b12 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2261ba8c-466e-4ff5-b5af-a5f528742509 CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03db4924-4a14-4eeb-b0d3-4904764c3d36 CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 203eb52f-1ca6-4941-9422-97159c964414 CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d876d55b-60f0-474f-80ae-06e980811577 CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa8f2843-25ad-4cda-ada5-87f1145dbefb CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186e8b26-b541-4626-83fb-19b4c145ca80 CLINVAR:425888 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e2e49fa-5824-4b9b-820e-ba6d4df4339f CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57fdb954-06da-4548-b5bf-93a2bfe37910 CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6383c74-c47d-417a-b6a4-cc7e5d48e3a1 CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6f51a6-92a6-43e9-b929-652cf295c7de CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f2f70b2-470f-4f71-9557-f2a09e8d55b2 CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd340c9-36f5-41fd-8a18-900db5bca428 CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 017b0090-4212-4146-8cfe-87b510e5283c CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cdee81f-5564-4ee0-bca7-dfac68bf54eb CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c342dd9-ce36-40a1-ba95-fa6a3d6c33d5 CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 611d7048-00aa-4c9f-a969-2b7cf4906ab2 CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8f4dc64-4946-4c4a-b3eb-b3e86c328050 CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bac2b5-8f87-46c5-8f51-67923d304397 CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c10de752-3daf-497c-af5c-f1a509ed7073 CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5c3ea9-9f3b-4842-af1d-61f6e8b0ca9d CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2c2253d-a52f-4588-b60a-d842eadb675f CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927dbb07-f8e4-4be0-9cbd-9358209169b2 CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65695c79-889b-4372-bd36-74a59148facc CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c7a089-ca05-434d-bd87-651bbf78e638 CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4defcff-79a9-4453-8609-d336eb9dccd3 CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9e16969-4b7c-4f5a-b7b7-fde5f09e7c98 CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d27e6d62-56a7-4bd5-a5f0-4af692e544aa CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0453985a-f8b2-426c-9648-1e17195eb374 CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edc13ade-32e5-40ea-bbae-f6de0eaafae6 CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32564f75-41a0-4ac0-ba32-51fd066b8fcf CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e8f5e4a-d4f4-4569-8ddc-301e513886c3 CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabccb06-af28-4480-833c-49eba0007ec4 CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccc83d26-b671-49be-8484-45f399de6b12 CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d74bab-8096-4967-a070-6783688832f1 CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3798460e-e9e6-4541-8dcf-7bc48581eac9 CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e86d67e5-f3eb-4510-adf4-b8895c509439 CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b8f0bbd-b44b-46f8-b794-740c4333fd3c CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ce0d63-b55a-4ea8-ac87-c3b1794b8e06 CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45b404b3-c00e-4c84-8e04-5cdbae52efb1 CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b526e242-2169-4ebc-830d-a6e54f5ea5d8 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8722c7ea-b2e9-4833-bda0-51079c45e490 CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7614666-f3b5-4655-8388-0f8cc3ae5f77 CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58d242ee-e430-4527-96be-ea7e67da16d7 CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f72985-7483-40d5-aeac-48f1786cfc35 CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fdd0a377-652b-4761-a4ce-39658a847b3f CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51d4c66f-a037-40b8-bc41-1efd3b4fee99 CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf1a4c50-99ff-4867-910c-3d377f3973f5 CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87154df-b310-48f7-8f6e-e504d18acb06 CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a7f12aa-c308-4071-9053-4665a74c94c4 CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42bd53a6-b2c7-4399-a103-948a9d0b9b51 CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65e05710-c86c-4d72-9c32-a325b466bb0d CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4282a3d3-37f9-41d8-9fa9-08ba64bae8a2 CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebab4aa6-2f89-4ad2-baca-c87cb16e2bf0 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e9acca-93bb-4461-a691-f8b6dc10713a CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 420ff32d-0dba-42af-967a-72e142e35eef CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ddf6697-867f-4e03-b465-184158a83aa5 CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6670b84-b825-4348-a54c-4ba8f74bc647 CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720ddafd-87fc-425c-a7f8-0b1dec45ca1b CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d39be83-b8a7-4fa7-9888-6e33bd589dca CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8707ed85-3201-4c31-876d-474f4e57ca25 CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2054285b-cd8d-42cc-86dd-81cfbcfee8bc CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b53c09b3-fec7-49be-9ac4-da9bce55fc40 CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e991bbab-762a-46b7-b168-9213f71c5b86 CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd13c98-e6a2-4294-8e48-cf280251a729 CLINVAR:2035290 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 958bed20-d87f-42c7-9d6d-8744cd47e630 CLINVAR:2035290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b256b028-829a-4401-8ab8-40fa642da067 CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd0d4833-c662-416a-a0fa-ca3e06247d57 CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c67884-e063-48db-9555-527c55892ab0 CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cfda845-1f17-41b7-b42b-91e4a622bb90 CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfddc6d-dce3-443e-8cc6-afafc5210521 CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1d096d0-3225-4af1-911d-7b3708f6c369 CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ffc5dc-5ae8-4736-b065-fbe44e70692a CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb38ba47-082e-42be-a9c3-646927f79f5c CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792b5439-f748-43f8-9049-38a9ca2000df CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0a481a1-6fd3-4a24-9fb9-4d0575fae07c CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3368bde9-1311-41af-b740-eca2ce32e0f2 CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ca86180-694b-4eb9-a868-3677e5213c5d CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d82e1efc-a921-4c39-8d2c-ec876976cd1d CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e021c485-eb70-4ba7-806a-b6dd0d72204a CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 526a2c8d-f427-4113-a44e-60ae4803411b CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69bcb64d-f87f-461d-8681-830cf5a09e4a CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651a1f1a-87e3-4881-b984-9a7ef2a200bf CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a618d799-7479-4543-8c42-4eb38ccaa816 CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867a4273-9fcd-4ae3-bbdf-80e4e29a02b2 CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d2f0354-6d6f-4c25-b1c5-f318fb5fa9db CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31eb63f-7b66-42b4-a86e-dea4ba76f8cb CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77073e9f-91e5-4d1d-b96c-f306e5251226 CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae89ef5-30a1-4557-8b99-db5126ef023f CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7e54bec-cf2d-41e3-87d1-456170b54b00 CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127bc05e-fb26-4a16-afbd-e7d33f929fb1 CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d506d51c-f6c8-40fc-8712-596cef5fea41 CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f5810a-5c08-4f1b-9d58-404ff84f00d5 CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87c246b9-0e26-4333-b28c-768030d55a78 CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6434369-a9de-493b-b7d2-0b2ba532d6a4 CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36c26edc-3887-45a0-b730-c944a5f4079c CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5159ae-b1e8-486f-883b-7a15f9e4ed0d CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbf63b44-2c0c-4c6c-ba08-47da39922b8a CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47710155-5a3d-4758-8bc2-f070b6efe4ac CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc19589d-07a1-4528-977c-aa81b1623cfe CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55abd656-4c89-46d3-9eb2-5d07ee450684 CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e4f98c4-02d3-42fb-add4-1c2fab9b0d75 CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8f6666-59c1-4e73-89a2-0c2692d5d6a2 CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7525fcc-f326-4341-b9a0-b2bd818fdf29 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f97938-5f25-4ed1-962e-39a9890640f1 CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb44598a-c062-49d3-b4ee-313852933291 CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2a9903-09ef-45af-87cd-df4bfa9ba170 CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c94e74b-6b0a-4751-9ec5-d7705df45258 CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9839c65-9a8a-4b66-a6ec-582f7b79e622 CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87c31413-861c-42b4-9801-41f66c6457b1 CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd50003-7005-4a92-9298-d0dc6a044dcf CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6295fdc4-c9cc-4056-b46d-016dbd1ef539 CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb9b60a-3f74-46ae-81ff-136ae4b3658a CLINVAR:2181706 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 265a2b75-2694-40b5-9544-1b82489f7e11 CLINVAR:2181706 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3d2edc-26e7-448c-bd42-05e04576c5b9 CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b4a1022-7f55-4193-a10e-bdbb7461b992 CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b360b9-ef09-4e31-8c5b-6bc864b11347 CLINVAR:511341 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7dd1b01-b840-4993-9afb-c3f631625844 CLINVAR:511341 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60b17d4-a13b-4fe2-97f3-2d5b2c5342ae CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4087aecc-4aad-499d-b06c-c077b71888a8 CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd812004-7e5e-4a70-ad04-17c0c57ec9fd CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d38076a5-6b73-40d3-b256-55558ce8c236 CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cd3d20-4955-4187-803d-39fde0d89dce CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9bda5f0-816a-46c1-ade3-afffa634f7c4 CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2e6a8de-ec38-491e-b531-883336557b0d CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8c1c4e9-d7f4-4910-adbc-06aa56646247 CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2bf62a-a058-4d27-a2c1-755ae93be04b CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4dd9ad9a-929e-4548-8ab5-aac6f102fdce CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 314fb4b2-3e16-48c4-92be-90ffe14f05f3 CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e564650-b94d-4d40-a277-fe657b994a50 CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c612681-4370-4bfe-94aa-f733d9ef2501 CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a172f280-97d1-409e-917f-6e0c9cc514cb CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45426fce-7171-40fb-ad78-b52a7ee0c590 CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36cafee-40c7-45d8-a182-8b2900dbb3bc CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75a641cb-8ddf-480f-b229-fa233226eeb8 CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a959ac4-d965-4a16-a075-169fe5f022dc CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce164120-53bf-4142-bcd7-d3a19623d1ed CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c8f9c0-8faf-47c8-8490-e8ecc78446fc CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 627ed990-6acc-4dd6-be3f-b4549c6f8724 CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751aa137-17b1-4957-bf27-551d89acc264 CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa92afc8-89f2-401e-9dc4-ff6db5f88513 CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813a7af2-002d-40b2-a0bb-383d0c0f139b CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fda28e00-aaf9-4c28-9352-56dafab61d7e CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2266e34-19f7-44b2-bc63-228f034a8bb6 CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ab8613a-a7b1-4ecf-a324-6539164c533c CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67277d24-57eb-48da-881a-1101bfea059c CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 907c97ef-47ae-4a91-b907-f804342b00fa CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f0d68a-12ef-4ecb-9d09-af45e6244838 CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb07fac4-b52c-460f-b9f5-60233fe50f75 CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a35df17-a7f2-45a1-b5d0-3c92cdacea97 CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34102d09-771b-4499-884c-9a9642acc33a CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32bd3dc4-23f5-4a44-bf60-64a4a3d69a21 CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab7600c7-9c59-4c8a-a6bf-9896a4261a88 CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6dbadb9e-7a58-45aa-ae87-f55426044ce7 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78a465cb-2cce-473e-9f5e-79c60b3ad326 CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc74c320-69eb-4ef0-8c61-2959a0cb63b3 CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ed7ddfd-06fd-4593-ac20-2ff096c6ec04 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ac8022a-2b6f-4f16-992c-c51c008721e4 CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fb388d4-626b-4726-94fd-5bcf5c6842c8 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen becc2789-425e-4182-b50d-9b781ba00ff5 CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d798b7b-c156-41fa-a32b-107812c18652 CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807fc18d-a975-4894-837a-bbcc52e32f36 CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16b37f12-03b2-4c99-97d0-210c06c6bcf2 CLINVAR:558316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b90284-2101-46b6-9d3e-6727be7e4f79 CLINVAR:444626 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35c2410e-9957-4e23-8792-792d1f6157a0 CLINVAR:444626 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45bc101d-7b6a-4490-88c1-76b576f66ef7 CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen baa0a4aa-a662-40fb-ad4a-caed92be41fc CLINVAR:92644 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae35908-ba2e-4c4a-9c32-7d4c0f5e1778 CA2573332224 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08e84bd7-26db-44a8-8d39-ad8747063839 CA2573332224 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c340e0f-1c47-4326-a73e-1ddda1fe9642 CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e97eeca-00b2-4de7-ac3d-b4a5c7277748 CLINVAR:2704858 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0098b834-bb3b-456e-9112-6c2077876a0d CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f431303a-28f1-41ed-91a3-12c7e6c86065 CLINVAR:1323099 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdda41a-d302-498b-87d1-532a431a97e4 CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d886774-2132-4004-bf2f-9d347692c21a CLINVAR:92636 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e24ff3fd-6227-4161-9dd1-549d56db9532 CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28abeadf-2c16-40b0-8b43-7f7bb79bb8a2 CLINVAR:1323098 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e7ba68-dc49-4fdd-b32f-c4daa300dc0e CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73d96c05-9f30-4b8e-9fe4-73524168a2e4 CLINVAR:638074 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f2dcc55-81d1-4835-aa53-dc9577654b17 CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db0c4cdf-f918-4ccf-8a17-a3f4c5e69461 CLINVAR:828094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0273312-a4cd-42ae-8d23-d3d79bd1b192 CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3909e4f4-24ff-4c28-8bfa-b25118822cf8 CLINVAR:193061 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a90e145-72cc-4ee8-a7aa-5d39cf80f556 CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fb7442b-bfce-4cfa-8ed1-f1636500330b CLINVAR:222994 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6137374d-2ddc-482d-beb9-67c93e403848 CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f93d906-4457-4562-91a5-fe1a69b4a438 CLINVAR:92643 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca3f3c3-d670-48ce-869a-ff69c3f60219 CLINVAR:557616 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c5afecc-89bc-4c00-9f3c-e1334713a957 CLINVAR:557616 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625809ee-610f-4fb8-b691-99057fe490f4 CLINVAR:1406350 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aac72a66-84e0-45cf-8be6-82669ac316c4 CLINVAR:1406350 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a294403b-7785-4ec2-8c93-0deab235f6bf CLINVAR:1968567 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d08b452-c607-4dbe-aa31-b4e1010bc7ba CLINVAR:1968567 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53209e04-62a4-4e8f-adcf-db80d1548723 CLINVAR:905912 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15511019-c123-4375-9022-c1e0178fd397 CLINVAR:905912 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d466db-60ec-464d-a4ae-aac9d4eb44da CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54c813f6-0070-43c2-9109-4767dd5590c6 CLINVAR:1309246 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465ae629-3ace-4046-89c2-b7119a78bfe8 CLINVAR:967585 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a6a2a24-ab49-4238-a275-fd0b22e9b96e CLINVAR:967585 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd3012e9-1bf4-499a-80f2-e1c4cd857980 CLINVAR:1384361 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d9d3f42-9be3-429a-95bb-06cc51aeb173 CLINVAR:1384361 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14757cba-dc24-4a71-9b00-04b4b8026ca2 CLINVAR:1458769 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c17231d1-36b5-40c8-a044-4053bb2cc3d6 CLINVAR:1458769 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00961012-f079-44b2-b11e-6825a3e3e712 CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f544367c-0271-4ea4-a971-68f40982361d CLINVAR:557260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd7d7d9-ceb4-4b7e-9584-f3063436ec13 CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5119d4f2-9295-4820-bb30-4fdfd3ed46fd CLINVAR:1455223 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7b2f1c-bccc-48f5-b9e4-22537d3b2432 CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d5a598d-1b23-4e6b-8ca6-21a948ee514a CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f988e993-3f1e-44ad-9c9f-f495332a883d CLINVAR:551675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1218a23d-ff4d-42d0-a4d4-b9de316178ac CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9faf1499-3b87-4e4a-9170-0db33dec15c7 CLINVAR:2198440 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 012408a1-c3cb-4ad4-bbc1-f991ea4539ab CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 628ad2b6-a3c6-4ba8-be4c-60aa7bd6883c CLINVAR:557205 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0076a7a2-97ed-4ad7-a925-095974daea24 CLINVAR:183099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddf75200-b4a9-4f42-b3f4-7122c95c7bd8 CLINVAR:183099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc516030-5a25-4d5c-bba1-a3c816045e45 CLINVAR:450684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0e2aa28-f21e-4c82-9f5e-df8b3fbd2622 CLINVAR:450684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0620f41-c20e-4b80-88f9-e2c2b30860e5 CLINVAR:251487 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3645c47-3159-46a4-8532-9a88c4a46d14 CLINVAR:251487 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2238c1ca-e781-4ad3-8f64-f2d083055b84 CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98d9e466-b419-4a42-be2a-a8a85f735208 CLINVAR:18286 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3d0e09-c011-46e4-926d-3a4c80e9d0b6 CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66904cda-2fcc-48b6-b20d-9217a11c00f9 CLINVAR:464113 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c540e6b-3acb-4dab-853a-e192d7cee12e CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a026a6fa-3f06-4523-bde8-de1b07566948 CLINVAR:1303122 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe012800-ea09-4bf4-b8e6-b106a2eba835 CA345144077 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c989d28a-ffa0-47a2-b33e-d763d87583c2 CA345144077 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4b37a28-086d-435f-b257-9f7536920192 CLINVAR:835545 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a97a559d-49b1-4c15-9752-72a307455a1f CLINVAR:835545 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e350f0f-3870-4eb9-977d-fe07ecba99b1 CLINVAR:1051987 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72f99efd-68ec-44f7-b913-83e35c0244cd CLINVAR:1051987 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef554ca2-fccd-4ab1-97c0-ac817905a7ce CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 786cfbf5-068e-423e-9e31-7fd3a8537b0a CLINVAR:127188 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1d0596-1673-4909-ac9d-6eb30153f8de CLINVAR:1034583 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3bda4d0-6cf0-4f93-89e8-31ccfda0f5ad CLINVAR:1034583 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a42b77-1c02-419d-8ba0-6eee884b83af CA400021704 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 973331c3-c4a8-4a17-bdff-202f2bbfa9d1 CA400021704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0ecc09-3114-45d2-add5-03b507d332af CA8603165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eed7ec84-3a5e-42fd-9d23-fc47c32711aa CA8603165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10dad9cd-81b6-43cf-a347-6cbe51afae1d CA399804710 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d811022d-2eda-4576-a97d-9dd168d53fa1 CA399804710 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cff573e-c467-460c-a90e-a941d0f67c9d CA500262444 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c853004-f6a3-4755-a574-86d8d5227810 CA500262444 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b33867-c3ec-4cd4-a5d6-bad71e7b0b5a CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 443f0524-b49d-440c-baba-94c875c07ff3 CLINVAR:9735 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcfa29c2-f701-4190-91fa-92dc7bfe1eb2 CLINVAR:155880 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 483df414-32bf-4168-9b0d-1ec38b9d820b CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edda9f42-b443-49ea-b116-c417c9d12bd5 CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca52800a-f249-456c-87b9-0cf2829d8251 CLINVAR:9706 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcff5c10-e3e6-4b6c-96fd-276a91e2feee CLINVAR:9660 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8eb0a71-a6c3-4b7d-a310-47361c8d2c40 CA414773311 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0c607f0-ccfb-4d21-8f82-9ff1f23fafe8 CLINVAR:9671 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d71280c0-ab37-42fc-b2f3-0bd030fcc397 CLINVAR:9561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6d9ab8e-c70a-4f4a-af16-fb656888df74 CLINVAR:1802530 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb99096f-3253-4af6-acde-66b6cece37f7 CLINVAR:1802530 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031f6181-a7e5-4958-bb2b-b9d6cb2aba99 CLINVAR:994542 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98a03369-d8cc-45da-9ada-8106ee01b05f CLINVAR:994542 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 553f34a4-1ebd-4d14-ab0b-9958852e1f9e CA386972790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c670736c-da5d-4373-b6a9-549238a493f6 CA386972790 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c174abdf-b47d-452b-b598-ac6605a3c667 CA386966029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68b4faf2-dbcf-40b5-8c59-bbb3ce8d39d9 CA386966029 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373b3bf1-dbff-4819-aeda-625f01ce092e CA386966026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43683309-c084-49e3-90ed-223978db59f5 CA386966026 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1faf1f9-07c8-4d09-b394-7e8458d79c4d CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df58353c-3712-4179-9452-4e515f6daddc CLINVAR:2758582 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab062607-03e6-4fd6-96d0-b3acb06a1eee CA1310372689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b7e4842-8457-462e-9663-2b1ffb2e794e CA1310372689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d74daa-04ab-4544-a16f-7159d7196462 CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 178797c8-e497-48d4-aa6d-77b978a093f0 CLINVAR:1700663 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9befcb45-14e5-4aff-b016-d86956ae9276 CA409108558 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de399559-3ea7-427d-8b63-b6bf513f322f CA409108558 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919459b4-2981-4091-9795-13ac54cf5fb2 CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcbf9092-3557-4e89-bd0e-4e4b754c6111 CLINVAR:143710 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a12b1b7-2f78-4ccd-a537-82ef65de41d6 CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 327a53b4-0cbb-478c-9550-4d077fbeca09 CLINVAR:252226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6494ca-db58-49c0-8afe-3905790db164 CLINVAR:252227 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f571e27b-bf88-4751-a9cb-6402aeb75b41 CLINVAR:252227 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc71057c-e616-4abc-81b1-01c9b5478bea CLINVAR:251118 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7ef71ce-9b0b-421e-b2d3-b21c2a5600a1 CLINVAR:251118 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9e96f8-6f83-4fe8-b9a6-059e792ec8f2 CLINVAR:251119 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fffbcbe-05ca-4875-953e-6a008e621fee CLINVAR:251119 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965090b6-1271-4b81-9a33-22d93e58987b CLINVAR:889190 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7cf7378-430d-4f0a-a79d-286f3921988d CLINVAR:889190 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4929fdd-8b28-4129-95c8-cfe50ce83ad6 CLINVAR:920443 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b79189dd-92d6-4741-a722-3603e265a147 CLINVAR:920443 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8caa5ce-bd08-4f07-b39e-10a24ec94558 CLINVAR:251909 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f9573bd-4681-446b-b8d4-0d49ef9c9053 CLINVAR:251909 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebee37e0-78fb-470c-b475-a7a2faeff28e CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10d28e16-37c2-4d85-a936-d949d973b404 CLINVAR:987818 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d213df0e-95f7-4319-a389-a71df6a61021 CA409108532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1cb9adb-d179-4458-9801-9d555358d669 CA409108532 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78795c10-5387-4561-a15b-8c1ca5b27a9b CA2573106208 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec6efbf1-76da-4bb3-a264-d995cc95b4de CA2573106208 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8776e321-5db0-422e-8616-884c5c9a56aa CA4239711 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba20d1c8-352d-48ac-a403-a4da7190e5d2 CA4239711 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b60a45b-bb91-4440-a966-c2aa2f1b1351 CA367400485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aae16cd7-782d-456c-a1d6-d7b3406bda6d CA367400485 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e929f12-df25-4af0-bfe7-e2f6b81c9dfa CA367402020 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba4772f5-5fb9-4db3-b711-aa02c4086ea7 CA367402020 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad78b87-259a-4a75-a3a9-93673b58c143 CA367403047 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c29a69e4-a110-4fdf-a547-cfdfe978e788 CA367403047 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b755248-6cf2-4998-9014-947709601c3e CA367403045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a2a3073-f1ed-43d0-9d98-466a12460918 CA367403045 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d319aba-dba5-4bb2-a6ea-d57d7cff1b0b CA367403035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b661e948-f0f2-4bb8-8b71-ff5d2e36b397 CA367403035 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283572b3-983f-4b5f-b47a-fd3719274e70 CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f412d09-af28-49cc-805b-c046ac5707b0 CLINVAR:2500039 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982b4cc1-4fa4-4ef3-92e5-87fa5744f5c8 CA367403041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6271915-3d03-4329-948c-27461ac30c11 CA367403041 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2235956-66c0-4005-8cee-8d15a8680550 CA367401329 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c896dedd-39c5-45e8-aad1-653cce7a0316 CA367401329 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc957c7c-e75f-4c2f-8bb7-08a3694e5b9f CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be5b4b61-431d-4dea-9a17-da3629821269 CLINVAR:447385 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea30932c-649b-4771-8a22-618cf4cff3b7 CA367399062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c30eac9e-b5a5-4eb9-b77a-3c8fc9678ab3 CA367399062 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a6eaaa8-32df-44bf-89bf-bb892f4a2d69 CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4e3819a-175a-46b2-85e4-3d1e15e08913 CLINVAR:36175 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0226735-edb6-4629-aebe-fef7f42d209d CA367401225 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3564fafb-132d-4951-9ef8-1bf3b4b94c82 CA367401225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b8251f-2f59-4a62-aa61-a4e9c414b815 CA367401223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d1e9793-6346-4633-93c3-f39915c6cbdb CA367401223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8d743a2-7bae-4b69-a779-6b66aa3dcd19 CA367401222 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47546957-0991-411c-adee-02094e30c105 CA367401222 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aeb0b74-46de-4037-9afc-de3cc1720acf CA367401656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd6ef922-de16-4d40-b3fb-4996238fa7d9 CA367401656 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f15fff-fcb4-443e-9481-d64664a1c305 CA367401662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e40e2a3a-e9d4-4564-8c05-f75008a63aa3 CA367401662 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc65937-151b-4abc-886f-b0b3550aeb62 CA367399044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b247594-1e37-453a-9587-e762b0176046 CA367399044 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6d0a5b-fa93-4365-b25b-227552f7defc CA367399038 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29a4bda7-71f2-42ac-b63b-b4841ab812f0 CA367399038 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0610e650-90ea-4903-8975-4a023201d92c CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4047f850-0502-480e-a1f8-e45d50587cf0 CLINVAR:311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08564ae6-a722-4ba2-9b44-91a17a848949 CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff8afcc5-1614-48dc-9160-8192e5e690f5 CLINVAR:100330 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9742f97e-7e7c-48a7-b8da-3e42efc5984b CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 032d5da5-5f28-40e0-af9b-36ea2b0c1f31 CLINVAR:100177 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c9ad17-7003-480d-93e4-70af540e3bc7 CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6dbd0ec0-2cac-4ade-a631-b95b5816f135 CLINVAR:100281 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890737b5-4d5a-4309-9e97-644e281c08fe CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea33b23c-1ce3-40cc-b0fa-06fd88deef1c CLINVAR:11500 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ceeff7b-59ac-4b87-8296-724bddba2bc1 CLINVAR:9572 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cc3597d-b1d4-4617-ade6-473a06dbf9cd CLINVAR:155882 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 483fab8c-e713-48ea-b366-e64747624a40 CLINVAR:36342 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1361fc21-8bc5-4f32-b744-2f32f3c3dc83 CLINVAR:36342 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1944780-68d8-4481-ae2e-779a82e7b4cd CLINVAR:9557 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e2071b4-4f62-4a4c-b094-4c24666f8e12 CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1aa63e3d-f326-478e-b6f6-6330a0c229ab CLINVAR:188785 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871b2283-0e94-4c65-b616-d9519238d923 CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 844e2130-bab6-4566-ab39-b17cbad95bdd CLINVAR:972798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5884a860-5c52-4783-8f1c-11c2e2131550 CA658820951 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb90c942-1e2f-4db4-816d-24f00b47766b CA414915806 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc1c3621-b85b-4e25-a237-f05e72cd883b CA414915806 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02281eb-1b36-4eee-8191-f8f3c0f2a0d9 CA414916092 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d628926b-122f-4ff2-8174-a0399b40f128 CA414916092 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c51b866-7604-4726-bff3-3afd26d21a3b CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b5cd672-efde-460d-a2b8-ce4c4f9baa2d CLINVAR:627143 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c3d7ad-d8e7-4874-91e2-32de9ef4b7ba CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4fd505d-0114-4a98-8359-915c9ebb50d8 CLINVAR:225114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3babf29-5311-4856-84eb-9dc26932a24b CA414917900 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9f3ce32-4cf0-4b86-a856-4c9b26cdd26e CA414917900 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d6768a-15f4-4630-8fb9-88c17658f8b9 CLINVAR:798429 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77be287c-4fda-4186-97f4-2e251fece9e9 CLINVAR:798429 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373be704-cfe4-4d81-a135-1c2c2da05e56 CLINVAR:30005 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49e1afc5-0b2a-4e65-ba97-9d5f86ddfebe CLINVAR:586011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd346c57-1d49-44b7-83bd-3eb5086346a9 CLINVAR:586011 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcd81ee-3391-4f26-a614-ed08b8e523b5 CA409110117 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75c39573-bea6-4abc-b359-16e8d0abaa50 CA409110117 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be7be9cf-092d-4057-862a-009abd935f6f CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e830292-75ae-4b40-a3b9-3613c1fd96dc CLINVAR:251736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505aa7b9-9b9d-4d45-b6f3-ef3d87259db1 CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0012b04f-3dab-4d8b-ac31-eaeb30118707 CLINVAR:251479 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39acbaee-e7a7-427e-a707-198ad1cefa8b CLINVAR:9550 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7918f4b-78fa-48a0-8c23-959010460994 CLINVAR:40158 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36bb4d08-7569-4411-9c4c-15e6058a43cb CLINVAR:9568 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87a8056f-c114-45aa-94d7-b4fd870d0e3f CLINVAR:631469 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dc527b5-854b-4975-a50c-f2a6059e5965 CLINVAR:689913 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4c8ba7c-3839-4b0e-b9fa-1bc16ee3649e CLINVAR:692466 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b049152-7f21-4d2a-82cd-0682c26b988a CLINVAR:439962 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 352a4a24-53c4-4265-8da1-ce54702159f0 CLINVAR:692585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8323af7-c09a-4173-9ec1-1c5195e13579 CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0af6416e-2c32-4fa5-8b5b-174cbc518e9b CLINVAR:370050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3c7d938-39dd-4b37-bea1-1d0708e8fa82 CLINVAR:692961 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb2ba930-6ac7-4616-883f-330c4488bb24 CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2dbbca2-fca0-4fe7-bab7-286f29fc2e2c CLINVAR:551295 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29642c02-7c13-4911-92c6-651cae95e241 CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad10981f-854a-45d0-9890-7e763780182a CLINVAR:2149933 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b547d330-e2ad-46bf-b723-fda8a683a222 CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5afdda0d-3401-48b5-b99b-83c8402f81df CLINVAR:865841 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2365e0-b939-413e-86b6-b1e25ce54ba4 CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6030a08a-0bbb-4f4b-ad2d-7d27d67aa30f CLINVAR:98823 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913fd3c3-f356-4365-bf41-03d9db823f5b CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7d0e97f-f00b-443b-9189-a4ebafd5e39b CLINVAR:978979 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111da66d-da00-4355-ad41-3be3c63d15ec CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40c3358a-77a0-422c-9b04-8b0463b9573a CLINVAR:968598 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453804e3-c851-46f0-ae92-a9666955a54f CA902401 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 805a82fd-176f-4b71-8416-1e621fafd9dd CA902401 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b722f48-1b50-4b7b-adfe-d7182441ea2f CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b9c64f5-627b-46a4-a0f5-20a2e676cfd8 CLINVAR:560496 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14744a1-ac14-4668-9c68-9cc26ebaff35 CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b97e83b2-2ec1-4afb-ae29-4b515cceb673 CLINVAR:556178 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff07cdb0-0a3b-4605-843a-c63845e5632f CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a67cfb45-6130-451c-8e9c-d40004a17c96 CLINVAR:98854 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d503be-7957-41f0-a224-b52e4aa80af8 CA340744926 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b621d58f-44c6-43aa-ac89-fe0b03e35e91 CA340744926 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49af774-5625-4647-acfa-e953eee1c76a CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30038e52-0cdd-4ed2-933a-5d1e5fa8b1fd CLINVAR:942448 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0ba5d8-83a1-429c-adf4-f68f599d5eb2 CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4ec30a2-dd5d-4022-a838-cc0e90e46d43 CLINVAR:870346 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ac0b68-8175-4722-b8a3-0021c784d65b CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ecb5d385-155f-4649-8954-5ede3716a87d CLINVAR:865946 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657921e8-0d02-46bd-953f-29282b9f40d8 CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e148a9e4-bad9-4fc4-956d-f62701282b63 CLINVAR:13116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259dbcc9-ee72-4da9-b56f-d1f31e47dbfd CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 709a0e03-5cc9-4fd1-9ea3-61d8c91b5e29 CLINVAR:521371 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef8cd77a-9a41-4928-837f-54cd878f94d6 CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b715fe2-a314-4f0e-b432-b39a6aeb2019 CLINVAR:464114 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a9de07-87ca-4051-8b1b-604c9afc91f1 CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11c85bae-c60c-498e-add8-c70d48dd16da CLINVAR:1452968 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d1a781-3840-404f-9050-3d59bd107836 CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43d01c5c-5c36-401c-bb83-a599e08c4a41 CLINVAR:18292 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0554a518-e5ad-44c5-8754-9828212ecd0f CLINVAR:338429 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 752539d0-2571-4e87-9077-39d0de1ef3ae CLINVAR:338429 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83611aba-1d50-46e4-ba6a-9aa4de7c9b55 CLINVAR:129237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5cc7cb0-a04d-47f9-8e1a-235d3801e789 CLINVAR:129237 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b89325-ca4a-4e1d-a378-bc6977e1143d CA409110424 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 437014cc-0537-4cef-9652-c50432e07365 CA409110424 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b77d1b5-f639-416d-ad2f-4be79b07919d CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bc45560-fb60-4e3a-906f-15421b2c0d3f CLINVAR:811 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3add9360-e835-4511-aea7-3475362ea677 CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 780a806d-dbe6-49b2-bbac-420b52cbea6d CLINVAR:598113 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72e1969-4122-4fef-81e9-ae69695559cb CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7323edba-7851-4a01-b00e-66b1d153a15d CLINVAR:4022 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a313ff-ff3e-4271-af72-ed3397f44237 CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17da8099-a44a-46d9-ba8b-76d0328917e0 CLINVAR:188484 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e91d8e3-6b26-48c7-b3af-0e31c2e3ef4b CLINVAR:375778 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8feef011-4f5e-4950-be0a-dd313d24b574 CLINVAR:375778 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2abb9fb-e58e-43c4-a877-b771fa8dc968 CLINVAR:569548 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 388ee254-0932-43fb-912b-447f80867b72 CLINVAR:569548 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb2cfa8c-560f-4c24-8194-2b4f9a574489 CLINVAR:439360 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecb9996d-8275-4a36-a4c7-eee743c87f67 CLINVAR:439360 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e19bba-3328-497e-97ec-9a80e47bdc64 CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f175d07b-ee05-42b6-9899-1ac5236157e0 CLINVAR:464139 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba269e5d-c4e7-4a3c-9a26-b773dcdffe65 CA915940544 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad7272cf-96ce-4227-8e39-ac4d0c2cb81e CA915940544 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8935e46-2d05-4fae-8937-baf9fe30e3fa CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cb4fd4c-4b7b-49cc-aa8a-4e78adda224c CLINVAR:420100 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bca2eb9-0615-4af5-9557-a4eae5c711a5 CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2234f0b-0a32-4c24-9f27-cabcefbc6bb5 CLINVAR:280863 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f81af4c-23a7-40ac-bb8f-a1f4d2ec9345 CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d1fa4ef-7537-492c-9a56-a7506d5073cc CLINVAR:817462 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b8d295-1529-49a5-a3f4-fc0ead673635 CLINVAR:12881 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1a736b6-1b11-4f4a-ad03-b1d6bdff94d5 CLINVAR:12881 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 101d493c-23f6-4fc5-b5d5-d5b1b8bd46d5 CLINVAR:1423525 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22cb0544-3393-41c1-a368-341a6954793f CLINVAR:1423525 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b3185a-25d8-4354-a9e9-3aca859a020a CA2581998917 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6adf3b46-4fad-42ab-aa08-3ac46435b9d6 CA2581998917 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6f673e-981a-4098-af73-b1a736eef768 CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 721377b3-06cf-4410-80b3-a9135ae04a17 CLINVAR:428153 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05dce61-cb8d-4c86-9a92-ada9dd63a097 CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d930e1aa-57ab-4ad8-b2a9-5b961c0fb431 CLINVAR:433598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88077493-e489-45ac-9b21-39395e174a42 CLINVAR:9213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcaf3cc0-273d-44ca-b840-44d046d441cf CLINVAR:9213 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7d0a87-07da-4521-aeb7-35be2078c3c6 CA409110369 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e34a034a-aae9-4b57-abf1-916eed65b835 CA409110369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff486c8-48d6-4e84-9194-3cadbe7c5c1a CLINVAR:1687103 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d70bc18e-2d23-402a-ad39-f2adcb59e133 CLINVAR:1687103 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f967c2f5-a5af-4400-9411-78c21d12a5ee CLINVAR:18033 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ad21599-8ba0-4f90-b730-3d4c0bbfd048 CLINVAR:18033 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3dff8db-6c59-49ee-9edb-637f0733ec9e CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9848274-9f9e-42b6-8fe7-11d0dd9ed473 CLINVAR:18020 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af6612ca-5f14-4483-8884-e1e895e27dfa CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d476f533-b298-4977-b912-4ac879a03a55 CLINVAR:18007 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6687c47-b1ab-415a-9a46-04d663946c38 CLINVAR:626996 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba8dc8f0-12a8-40d9-ae65-6fcfbf6ed16a CLINVAR:626996 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6444ef2-1e1a-49a0-b836-8f43611e64d2 CLINVAR:18032 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7be62fc3-4904-4766-956a-73ba783b7429 CLINVAR:18032 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7095cc7-fe3c-402b-8f50-20232b08b298 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0091bf66-2207-4ad3-83c9-7bcd3ecf1df9 CLINVAR:2734038 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec3807e4-ff7b-4f55-8bd8-2241ae2d395f CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c124d336-1939-4936-b37c-4a80cd4d1824 CLINVAR:2505626 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db23210a-6afb-4cf9-a121-f5f998e02dbc CLINVAR:804125 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0016e504-4c91-4d85-acf6-ed6f56952af1 CLINVAR:804125 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d07d5b2-e9e6-467d-96ef-fd6e0785f11a CLINVAR:160202 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35d20d25-59da-4694-894e-6d18dd4f8775 CLINVAR:160202 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2cde90-510c-4f97-9436-3b8fbb6384bf CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9822e8d-342b-4875-bb0e-52ca613fee18 CLINVAR:200921 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df593615-2512-4cf3-973d-ce7257ce6f3e CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a748262-e746-49df-a2ab-b05dfb3e9544 CLINVAR:183124 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e2e2df-d3f5-4a05-8cf7-79d73ef38636 CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e39ac33-3dd0-43da-919c-076101cf61b5 CLINVAR:252012 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ad5578-1015-4474-b44b-7add3cc265c4 CLINVAR:441220 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95516025-0951-462c-928e-35c43e700e7f CLINVAR:441220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1deb2bec-3866-4faf-b971-4ed22bb21d2b CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8911be28-afea-4f22-9f7f-85e66d661c8a CLINVAR:252014 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efdb4552-13b8-42a9-b67e-33499f752cfc CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f430810a-0403-4db7-8bde-41fb304ecf73 CLINVAR:11909 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b1084e-df6b-47c4-b6b3-efae5667d4d6 CA2573332225 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e9224e2-6008-4fea-9bb8-f398d192147e CA2573332225 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88ee34e-ceca-42ae-a2a7-37eb263b3e04 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56c3c81c-141e-499c-81e3-df75c8b12272 CLINVAR:11908 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a65c49b-7192-4266-9c95-e7e2fd16e947 CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db45fd3b-b545-4553-b888-abf08cd26c28 CLINVAR:11910 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f15fc867-f487-4117-b0b3-89e996b6ed35 CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82128281-d6ef-4ee7-ba65-5d754170c752 CLINVAR:36211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f8b57c2-820f-4365-82c3-fd8820088678 CLINVAR:931741 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec679056-c68c-4261-9156-6282f92a3bb7 CLINVAR:931741 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbe2491a-f2ae-48f0-a667-ea4832c9f2a1 CA409104248 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b733bfa-edcb-47b8-a97a-bdce32816551 CA409104248 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f714036-3c4a-4480-9b09-ace840573dfa CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24facf7c-e494-48d3-9172-dc46898df5ad CLINVAR:447400 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46d23f4-9729-413e-bbd1-16022458dd97 CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b7c2fd5-6866-4430-92dd-76117bd6c927 CLINVAR:1031829 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 150aa242-a2f4-4882-aa55-fecba6f52c8a CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b8a8111-90bb-4965-9599-20b66d2d5062 CLINVAR:427190 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40705be2-3ad8-4831-a6a7-0590aa69071d CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da54b94c-4a36-4968-ab23-72e5423d102c CLINVAR:801630 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b476a8-5d20-4c84-b114-99b646346269 CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a9e0413-0ede-46e4-99dd-f723d725e047 CLINVAR:431989 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81172b4-ea45-4e06-811a-b7a6742a63f2 CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88fd7844-705d-426e-ab2e-c470fdab22ba CLINVAR:654469 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308640f7-2559-4eb5-92b4-a68fa4cd6c25 CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ad1b170-60bd-4292-9ef4-20225cc067df CLINVAR:2136532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a829039-b1cf-4b84-bbc6-9ba1e4ff04d3 CLINVAR:812824 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c81095d4-bcc6-49ef-9f89-6348c05dd2ea CLINVAR:812824 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96c3fa6d-ee3f-4c24-b47f-3033f9325360 CA367403885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb2fd255-f19a-46d1-b6e6-16c065bb92be CA367403885 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da811d5c-6f0e-40c3-835f-1d8f946c2c32 CA367403876 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48421e61-81b5-4e16-ba46-bc6fabc6844d CA367403876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4baf9701-8102-434b-88ae-ee7d6eb5f920 CLINVAR:1405428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82d1fdde-0999-4029-ac0c-d00abb892df7 CLINVAR:1405428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d9dc72-02d1-4095-9535-fe96023dcc7f CLINVAR:1676825 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30284c0e-6d2e-44c2-875b-b4d82628be56 CLINVAR:1676825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a53525-1d2b-4507-aff8-d8ad7149cc7e CA386960416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 086101a0-df02-440f-abf8-64810921575d CA386960416 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91380fea-0385-4d8b-abae-2ad3e176ce3c CA2621383482 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44aba3e5-c890-4b46-b7c2-f94ad5b5b5e1 CLINVAR:1761584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9caba03e-bc1a-4f6e-89b6-a185e7fad316 CLINVAR:1761584 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9dd9c8-d080-4bf3-b0a8-d669d2c8ba45 CLINVAR:1679313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76288011-9804-495a-9e92-7d1da6b9d299 CLINVAR:1679313 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8b15e5-14bd-48f6-88b0-45746982d424 CA9870528 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ee5aecd-1320-4ca5-b667-abc17cb83be1 CA9870528 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f304adfb-68ff-461b-9d1f-d5e0a22aa3b6 CLINVAR:425882 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 227b881e-2cef-4a96-812d-4fb26ac4cfd8 CLINVAR:425882 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270235fe-f56d-41b4-8e48-bbf20cc54745 CA409106085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f00e559c-ab95-40dd-818b-5d68cd1afda9 CA409106085 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcec79a1-1f2e-48b1-ac66-b6b8750a8386 CLINVAR:1399408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7daa72d-ac32-4962-b53b-6bc363dd7d08 CLINVAR:1399408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dbf5a3b-2a48-4491-b39a-31c91aacb93e CA2573320359 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fc19e32-5b66-476a-bbcf-bd591f828ad9 CA2573320359 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d98b7d-ce88-47be-879d-d64190edf9bd CLINVAR:812825 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43478804-316a-4465-b058-fd38c6050b50 CLINVAR:812825 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68090e9e-918a-4c43-afa6-c4eddecc16b8 CLINVAR:425892 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ee4e555-c53a-48a9-adcf-569449d53440 CLINVAR:425892 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f09893d-3fc1-4fb2-8075-0959647e1291 CLINVAR:812826 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92830158-c7bc-470c-a7a1-93a02826f059 CLINVAR:812826 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3b5945-660f-4ffe-9f40-5a18d40b96d9 CLINVAR:425895 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e32f2856-346d-452d-a833-7604f64fd0e6 CLINVAR:425895 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54dd3b4-5d2a-413b-bd68-70fb18507eb1 CLINVAR:65961 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a20abc5-76e2-4174-8dbf-5991083ebc6c CLINVAR:65961 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9063f223-4efd-4b80-ada5-3bc83df945d8 CLINVAR:65923 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfb82d30-120c-4bcd-b2a0-8d9fc09d3a38 CLINVAR:65923 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6475a52a-8ed1-4eb1-a1ca-f9cc52eff376 CLINVAR:328993 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f31fce8f-60f9-47e9-a11e-e029f9c6f661 CLINVAR:328993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132ef854-b329-4d61-b057-b4d3748a71a7 CLINVAR:212104 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 953807e4-d897-412f-9c42-c8efcf8d9357 CLINVAR:212104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c10a232f-1057-4a03-bcfb-30dab03ebec1 CLINVAR:651289 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1690d8c9-b061-45e6-92cc-3eb31d8383a3 CLINVAR:651289 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31983a9-9ad7-46a5-9869-4debd53e48d2 CLINVAR:571399 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d650667c-e711-4f10-af67-261e27bb6a79 CLINVAR:571399 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01d18c4-fedf-4d62-a895-b30fc124dbad CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbdea241-7ce8-4039-99cb-5e9010ed000d CLINVAR:425897 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9f1348-99f7-42c0-974a-57298ed620fa CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eecd4a70-915c-4231-b043-dc79d84a20db CLINVAR:812827 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928dcf91-3adf-4160-878a-398381d545be CLINVAR:425905 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f3d3cb4-ce08-4f99-a09e-2ff041652e05 CLINVAR:425905 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf376fd8-f4f2-4b57-8d80-e5be5748a4f0 CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 979c6ecc-2a73-43ed-a422-efd53cba76a6 CLINVAR:10573 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a27357a-2f2c-49b5-8792-c6fe90fd7619 CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cae2ce75-4e22-400c-acfc-64771803a566 CLINVAR:811516 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cf1170-c795-4595-946f-22785f8c2ab7 CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56787aec-14f2-4f98-9ba2-0efdee081425 CLINVAR:140555 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9d8473-01d3-43f0-897b-02ca6c7e71c7 CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3086a45-8682-433c-8b24-2a5911c0355f CLINVAR:2166 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4706587b-4531-4cfc-abff-7980c510c1a5 CLINVAR:282006 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 033c36b6-e34d-4d56-83d1-dd5c8a661a3a CLINVAR:282006 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1ea021-62f6-4855-b528-9a79e36dbd30 CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50a0e128-6e37-4d22-9a69-debf7d409e29 CLINVAR:627324 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee6ec4c7-6321-4b1a-888e-bbc0393f6144 CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3eef687e-8be0-4966-9d68-b7025055383c CLINVAR:195634 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c86770-6e0e-4583-9edb-0a20226949fa CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85ce86f9-5011-4395-8513-dae9b3b30632 CLINVAR:439677 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e1895a-52bc-4b0e-9bd7-f5e7fb8c45d8 CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd7e87e1-a8b5-4df6-8a6a-fe9755a00fef CLINVAR:96688 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5c72cf-b76b-47f3-83ad-9a06d4d1c569 CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef41cf69-7ea7-4640-a7cd-6d6cd0ea5475 CLINVAR:468825 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93fc9f49-7135-4323-8421-62b9b908b920 CLINVAR:286467 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 236c8804-3961-4906-bd3b-5878c415e1f9 CLINVAR:286467 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b29220-bea6-4510-a927-b983761b9f2a CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b3d0682-25c4-4418-ad15-9206fd666bb2 CLINVAR:284518 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80993cd5-7319-46e9-b00b-606b55651a8b CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e35b6ad6-74f7-4ff8-87da-0d0840e24dbe CLINVAR:286592 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2fcc8f-c19b-4be7-be21-7e2bbf6807ff CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9920f9a7-b8ba-4e78-b4df-dc181aa717e1 CLINVAR:17615 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7c325b-0b60-4f8a-af1d-5d0fdddf2dee CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0fb9ff5-0b63-46fe-a32b-6a1fe89bd299 CLINVAR:496977 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f180eec6-e026-49e5-90f6-b9f5783d147e CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a131f8c3-05fc-4436-b06c-acad3e698c65 CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f8a45f0-5f98-4349-ae0d-82eac4dfb4e7 CLINVAR:1072479 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7dd73f2-e28f-4631-aadb-5e48f66e61e1 CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ff97211-80db-40e4-97b0-32aa24842faa CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab02287b-9efa-4d91-8114-d82e27c266d4 CLINVAR:282623 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce303a3-681e-42e1-88b3-e4bc9e80a93f CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7dd17572-23e0-42f2-92d4-4a8644c1f9ad CLINVAR:284946 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be827796-5d86-48d4-a790-797d6ed4dbec CLINVAR:594086 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcd03cda-1b97-4f31-89af-e9a5c5ce0dd1 CLINVAR:594086 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570de2ab-ad87-40b0-a4e2-a7b35bc03fc0 CLINVAR:452720 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad535643-712b-4f32-8bbc-2e6427789aa9 CLINVAR:452720 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481609ee-e1f0-4be6-9110-88f9d8efcb4b CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b662384-3fbd-43c1-af46-e4bea7865a46 CLINVAR:37202 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d5140f-ce60-4e4e-a4da-3c35c020b24c CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 892d0481-d369-4397-8a80-de6cdb547cae CLINVAR:497670 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f65305-0c47-420b-be8a-e4e296a93217 CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3600e58-4755-44b4-af94-a477f921a3df CLINVAR:198031 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15eb16d9-9429-4a55-8510-8dcfe56768a0 CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bff4ed87-4a25-45e2-8b33-2b4a2b187f9d CLINVAR:497672 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72802de1-7732-4424-bf20-b6bda3b2b630 CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a73fa640-05b8-4c2c-a10e-7cfc0dc537eb CLINVAR:9437 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c655269-1a22-418d-9320-896b7b882ba6 CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 257c193b-26bd-450a-ae39-d9d4c93c9502 CLINVAR:978048 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7f57f4-fbf0-484d-9349-5dccb154dc64 CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 110511b0-6a26-4d8d-a535-4eeca27474a0 CLINVAR:523842 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067f1a0a-943f-4818-aed9-1d6ac9d4d584 CLINVAR:284504 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 014f2ef3-0631-443b-982a-b7d9dbbfc4a1 CLINVAR:284504 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08d6d679-9834-4324-b7de-5b3574addadf CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6aa1bf63-833a-450a-934f-447f4b93b9c5 CLINVAR:370474 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255739e8-00cf-47ba-b6ee-d55eb9b5a8db CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6656c5d-3175-4788-99ee-6df8dce4710f CLINVAR:551805 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d503f5f0-68f6-487b-a8f8-d160e1bea92e CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fedb9508-9ea4-4f0c-b113-cc8026420f23 CLINVAR:8714 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b340afbc-154e-44ff-8f1a-a4ead412edc2 CLINVAR:1451826 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9a23c1e-3dd7-4470-9958-a4f046a8ce3d CLINVAR:1451826 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3243e7-4b46-4c6a-b4fd-681e2ec49592 CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c00aeac0-4564-4423-a4df-b95bd378ed0c CLINVAR:289650 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb485cc9-b38e-4e1c-854c-c84506888694 CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d433660-1c61-4046-9cd6-cd11f733acbe CLINVAR:836267 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9959b5d-abfa-42ea-b032-802cf1a1b71a CLINVAR:189243 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb504192-d30f-4441-a7e7-b6eeaac10bba CLINVAR:189243 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5019a43a-30fe-45e7-935a-d37363c81e2e CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7deff48a-e495-4c80-8a7d-2b1635fb985d CLINVAR:2008 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bcc9fad-3009-4004-9a13-11ddeae075f1 CLINVAR:192194 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50d15660-4f3d-466f-81bd-fa8820dfa0f5 CLINVAR:192194 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930fe00b-41cf-406f-af31-e0d676b37801 CLINVAR:652862 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 882c5015-7160-48c9-b209-f4e1cfeae402 CLINVAR:652862 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7beaae43-6407-45ff-a4f7-798fec9d2e71 CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8cd7b37-0d63-4df2-a59a-c48871c8d656 CLINVAR:8172 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd887ca-e6ab-46a8-b66f-eff1e9fbd1bd CLINVAR:202088 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1595a837-1ff6-4fac-ab92-6f9b4764f98f CLINVAR:202088 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b70e148-ab4f-41f0-bf47-8e7d9a403d1b CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec994436-653b-4a7d-bb5a-cc9c7e50cfbe CLINVAR:1677453 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64788d6-013c-442b-a64d-8105b1f9d9e7 CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e45caf15-2170-4332-8330-37a27659d3d9 CLINVAR:288644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6022fd9-62db-4f4d-82bb-937678a2ee2d CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7972594c-5240-4e82-993b-ae28ac09311c CLINVAR:217224 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e5cc1e0-a2cf-4d1f-80fa-7f14a367756b CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 436e4a14-5b69-4aa7-8c0d-1f8beec14054 CLINVAR:290209 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 241bc275-6e07-4e43-9d1e-3e26ffaca45b CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b12b0e1-e307-472a-bde7-05f78265e028 CLINVAR:94365 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26daabb8-9d2b-4a57-9636-70f71b617501 CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25d792f0-c0f6-45b9-9753-9a76ee449f8e CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1be69215-5d12-4700-9f9e-9cf95af2e254 CLINVAR:195490 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8160995a-70e8-4863-8ae2-0792863a0f8d CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 434c276d-7fd0-4d14-8dc3-099cef4aaa90 CLINVAR:94291 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3f7058-17e5-4f5a-954b-b7520da6bd61 CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 154dbed1-c3af-425c-9c22-8c788b286ff8 CLINVAR:936623 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a7fb8e-31ab-4113-9334-9e11aca52e9f CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b908890-37c3-4fd1-a094-b55bcbdb1f8d CLINVAR:6685 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cb73c6-d5db-43a5-8386-4a5bb2f9a2e5 CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f3a0c5d-f7fd-4d5d-a520-55abf9b8731b CLINVAR:94347 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f617c6-1cb9-46f0-8530-6770d6c65dd8 CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf4e36d4-f6d6-4b5b-a12d-03a238fcde3e CLINVAR:2674990 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263e54d5-d2ef-4676-9612-2d4ea764446a CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f3789b3-39bf-4499-9474-1325071137e3 CLINVAR:288647 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e401c0-368d-419b-92b4-f69f6ea553ab CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7117fc50-ea31-406c-ad52-9d759791c607 CLINVAR:2734216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695b5d23-5f85-4c97-9b77-0d7567e48e67 CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b28bc01-7938-459a-8b97-aca28a5a3b63 CLINVAR:283205 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c43f905-2bbb-4070-bfda-d2b2a1ef9651 CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 304ef68f-71e1-471e-b32a-e38822c31852 CLINVAR:6684 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 718e1c55-ae50-4e24-82a6-527c415815b7 CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0e717a3f-58b3-4062-bbbd-d74732e3a55c CLINVAR:1803708 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29a233c-9156-42a6-82d1-47e8d4b4b062 CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e72ef95-8a5d-4879-bc9c-a7f21ee1f289 CLINVAR:94278 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c6b7a6-72c0-4551-88ec-689d030d7e16 CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d0cc842-d1bc-4349-b391-4e8f4412cc4f CLINVAR:555968 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35ece74-1d95-4756-88a8-54266f903f3c CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2430782c-6bad-489d-9782-ac0650efc25c CLINVAR:312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c753f3-5469-42b4-8f28-63c57bc77a81 CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78366099-8470-4b08-8cbe-d623195e0fa9 CLINVAR:100208 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31df8059-d463-4616-8401-33b4e39705a8 CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 386a4a4f-9e70-407b-a587-96ab6733ac01 CLINVAR:813985 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81081d8-6a29-461c-ba4b-b8a126a150cc CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 794a125a-0832-483a-839a-dee0c37d5b6b CLINVAR:653601 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ac0ad6-029a-4d39-833b-897b17c9c8fd CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01b73539-b138-4265-a09e-4a46a6152f57 CLINVAR:17621 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21746de0-0b2f-4477-9d4e-41dbe9c1d02e CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdb9c257-3a2e-4b36-98f8-0fdfecfa76c0 CLINVAR:217151 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b247bc9-ba65-489d-bb6b-2fb7219aa24e CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1dc0c63-7ffe-468c-907e-d10ed1121ee5 CLINVAR:620114 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d063eecb-bf3f-475b-a936-da93788dceda CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ece90cc4-a709-478b-a040-e0f268bc4b8d CLINVAR:17618 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30198768-0457-464e-9d3a-ad8c105d8839 CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dabb57b0-f55f-47eb-9fc9-5e21ddbdc3ed CLINVAR:501754 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6feb0b-abbb-4348-9d81-ea504a7f33c4 CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cc77b8b-8146-4f30-ae20-61dd1aef12dc CLINVAR:92408 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad02883-ee51-4fb2-99b1-800b5cabaa09 CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2d6fb44-1607-45e2-b357-87ae89bd811a CLINVAR:65693 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f49fdb-6384-43a0-8d8d-71eefa36a36a CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc36bb65-ce40-4607-830e-0e5dfc372832 CLINVAR:197624 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9036f9e-16b3-4afb-ac33-b5685eacc2be CA2830782976 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ef19e736-ce66-478e-9f10-abdab260e441 CA2830782976 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb74059-f930-42ea-b0fa-ba9a8a025593 CA2582131592 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38902f6b-e4a3-4cc7-bf7b-9192b160bd25 CA2582131592 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e03b1e9a-b5e2-4849-bfe2-ff177c0fdb5c CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7147d200-2290-4af5-b65b-b65afcc93cfb CLINVAR:217147 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ce17d5-f270-461b-9431-9c0b9ba739ac CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86c63419-25d6-49ad-b8da-f7fed3690af5 CLINVAR:17622 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a558d6-2ff6-49a0-843b-5cd0aa24ab49 CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88a92f04-a0df-48b2-bb46-37a48982d258 CLINVAR:166790 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed634b80-a866-41fd-a52f-24fa2bcf2a96 CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 116fe3f7-cf73-4ecf-975b-3ac57bdc744a CLINVAR:283259 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259a8dcc-b0d1-4d34-b171-b5da17fa6d6f CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7b78c2a-a7f8-475d-a8eb-623f09100be7 CLINVAR:289082 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270c19ed-6ea2-473e-8ac9-5b92101ab57c CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcf53d06-4485-4bf2-acc0-56c4474503c2 CLINVAR:282873 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 893e22e8-02c9-4f4f-9865-b8b9b3d465ae CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5efca87-7d76-411f-a374-0ef99ed45a01 CLINVAR:497182 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c2b40d-2103-4522-9e60-2bdeb2346b1d CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8a89a68-df1c-4a1c-ba94-1682aabc7b12 CLINVAR:554906 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9dae9ba-35ef-4edf-a66f-fe7166390997 CLINVAR:280226 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd01b84a-406c-4f86-9858-6db26df3b47b CLINVAR:280226 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83f3fc4-5965-40f1-9224-e0cbf2fb395f CLINVAR:1429635 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2aa11b4e-0ec6-4561-bb54-096d8d96d218 CLINVAR:1429635 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651f81f2-1d4d-46cd-ab35-a65b74cf4dfa CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9ce84a8-5a40-4758-8b6a-b9f549af77da CLINVAR:651752 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc8041d-dbb6-4568-a1c2-e0ba76efd568 CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85dddc2e-69c7-46c3-8ae7-97c89609be73 CLINVAR:499193 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56520c6-651e-40f2-a5ec-f52ba22ebd75 CA2695237858 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f22c6f4-7caa-4c69-8c47-2d3d1839181c CA2695237858 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10eedac6-edf4-4618-9661-fcafe835cf61 CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66cadf6f-84c7-4c89-b4fc-1489e8550df0 CLINVAR:8712 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eda7cb4-0648-46e0-9377-4e3fc20b6e94 CLINVAR:804100 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20891709-0b31-40c5-a681-b70a03f62a3a CLINVAR:804100 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d3a043-206b-4d33-9614-a2a0ea4776be CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbe70bab-f65b-4d53-9a8c-341db7c68405 CLINVAR:9439 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f6a671-9e49-40c5-bada-569b7a761628 CLINVAR:427187 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045f9da7-3c76-43ee-823e-de51e713a95a CLINVAR:427187 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674d569a-db58-4ed4-ba8d-ef14d617323b CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9341c079-daa6-4926-b526-d1a5e083877e CLINVAR:92302 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cc6d5d5-d0df-41dd-9c89-c8c7e9961609 CLINVAR:1336429 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 070c384b-2d5d-4929-82d4-b0b2bd7dabaa CLINVAR:1336429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83afc1c-d666-43c6-b535-c10b96a6c4ae CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3060a354-b4af-4040-a2f7-25dd38fc7137 CLINVAR:217250 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8da297-e9ba-49f9-b1c3-54a8e0e2be3a CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39ed3d64-3c88-443a-b6ad-710e9e05c90c CLINVAR:197402 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b802955a-edc3-4870-88be-aeedabef5522 CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d3c5259-3ff0-41fd-a584-cc86f79b1b85 CLINVAR:2164 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e98c884-1485-47f4-8938-89210799ed6b CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fd7e0a5-74a3-4139-805c-c404db4c223f CLINVAR:280322 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74676a33-66a0-4f70-8efd-2d76d8630187 CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d660ab98-fc74-49e4-ab65-33cc189da012 CLINVAR:370775 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332eb3ef-12f5-4cb7-bbc5-cff7181ac567 CLINVAR:252122 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4974b972-55e8-4548-a804-31d2ae31498c CLINVAR:252122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cb575c-ba49-42a5-9688-4213589ceccd CLINVAR:252121 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f586f5b-dad0-4184-8136-9085b88fc58f CLINVAR:252121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631d6cda-ff49-4fa2-8c17-673278a346b2 CLINVAR:252132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b60330c9-1143-4493-8654-25aa90836e0b CLINVAR:252132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225f986c-fd17-45e5-a86f-76265d0b61b4 CLINVAR:979168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb4c904d-bdf7-438b-9d38-29a66fe8f806 CLINVAR:979168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1c2af6-148a-46d8-896e-b43023a4f536 CLINVAR:250929 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cb4c91d-fcb7-41cb-a3dc-72877827e1dc CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92d788bc-f838-42af-b6d3-9764dabd34ad CLINVAR:407699 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f70a33-a0a2-4fa1-a362-5e69fac26506 CA2582343066 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be97d704-2b56-4ce9-98f1-fa33f4cdf23f CA2582343066 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d62dffb-9dfc-40b4-9892-a34dd2574804 CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d3a8d4f-2e8d-4f82-9882-2b17147f9c07 CLINVAR:189177 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d5b39b-678f-4053-ade8-07fd6df83e54 CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 197675d3-1a39-4356-81de-d55775765b7a CLINVAR:232248 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4d158e8-16b8-4bef-aafb-88c98ac768d8 CA2497029997 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8f3105a-1103-4964-82ed-95812549513d CA2497029997 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f560d1-0906-4a08-802f-422f088b391b CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37ca4d04-e176-47cc-bf95-fc803b3133fd CLINVAR:3148828 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ba7611-523b-4488-a31f-635ee3997ec7 CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66c74ee8-cafc-4511-a36d-dcd5c82987c1 CLINVAR:646712 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88f1809-74c6-4534-a05e-49ca0a0a0891 CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 231df09b-c297-4066-99fe-32c57a10616c CLINVAR:482526 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e0a7f5-8f36-4da8-85e6-07e9904c0fcd CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c5b7b00-84a7-46b7-a9d9-ea0118681f78 CLINVAR:135780 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec24888f-9ddd-45b5-9a8e-e6d42c872cba CLINVAR:846136 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 888c4f95-9dc5-4d06-90b7-dff1ed17a153 CLINVAR:846136 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13195303-99a7-4977-9604-9c0afbb47513 CLINVAR:1422249 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1f7b334-482b-4fd4-91d8-65d33a63e733 CLINVAR:1422249 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3151da63-e794-4ffe-8407-5f20fcfc198a CLINVAR:420008 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8b8d5ba-7528-470f-ad19-5977b2cc8277 CLINVAR:420008 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54290e0-6b33-4fa9-8fbe-22df84446752 CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2aa32340-7f82-40c4-a680-7658533779ef CLINVAR:857860 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b03993-7d58-4bc9-b241-d1c6760e1d9f CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0116e239-23df-4126-a08f-c61b84983e83 CLINVAR:142355 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c528af-37be-45d9-846a-a4f8ff8588e1 CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d766344-60eb-44ea-8d22-1bf28320858e CLINVAR:371636 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98116770-0faf-4d60-9a22-480b363e4c38 CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46a18041-d020-4790-8169-7440694d226d CLINVAR:185137 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27fac76a-7cf1-43e2-bf1a-259eb7ca0914 CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec1d18af-b9f1-458f-b161-3d962d2bfcd7 CLINVAR:826252 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04615eb4-b636-4d58-9ff4-2af6083caefd CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a0e1be0-be49-477f-a8af-c2ba685e7d8e CLINVAR:407482 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a654a4a0-66ec-4f6f-bb35-d854cf844aa0 CLINVAR:141721 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5d316b2-f723-4201-a367-6df6ac4bce98 CLINVAR:141721 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb63791-a9dc-4125-ad26-474a9003aaea CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be106638-195f-40ce-a036-fbe3d2990d76 CLINVAR:142187 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b89ecf9-efe1-4d3d-93d5-8ddce56bbff4 CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c00a91f0-d459-418b-b052-be70f27e1737 CLINVAR:189104 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31456259-1425-4274-85bc-e0d48d2c38dd CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5624cb97-cbd2-4939-84f3-8146ac65d4ce CLINVAR:233553 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d57978c6-5abd-4371-b4a6-1abb69d24c34 CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10c901fa-be4c-4d7e-a795-a92a6b9fb663 CLINVAR:420368 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeebd46b-78a5-41a6-9fcf-7613e2f7cc12 CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcd0fbf4-4796-43da-9bf9-64a4591a91a5 CLINVAR:140889 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef52f22f-d52e-4adc-9c80-91ef815f0ba6 CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dffff649-b812-4121-a737-c30f5051f1c6 CLINVAR:3035 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b229ca45-1a9f-472b-9d00-e00202037c6d CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8d37cd9-f654-4f40-84e9-b26ea7bbc018 CLINVAR:186242 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de22513d-f60e-4a98-adff-96a012b51844 CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a546586c-572f-4fdf-bee3-98728b076fde CLINVAR:3021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f1503d-b10c-4092-b260-72658d082225 CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 523f23da-8c9a-4983-bca5-b05d2ee7bba5 CLINVAR:216024 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c11b0b2a-e82b-47c1-8694-e5c40a1acfd0 CLINVAR:417621 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f71f42ab-80ae-457e-82d6-f8d745d96b04 CLINVAR:417621 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d582f6a-546e-43ca-9bfb-19ed598f6aa9 CLINVAR:221124 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1f69d8c-2642-463f-9f21-707fe9f9783d CLINVAR:221124 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e540e66-3bd1-47b7-a462-a6b0753db9f1 CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efeea2a2-83ab-46ba-8966-893e9132bd03 CLINVAR:127374 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80210865-118e-4f63-80c1-5493e80a6e1d CA915940463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77790f98-1e17-4016-b6c6-5d5d78e691ce CA915940463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d23d469c-01e4-404d-9fd7-962748ea4ede CA414914388 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0602fddd-fb28-43d4-80b9-1c06addd6ae0 CA414914388 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2994ae1a-6756-4caa-b4c9-45bdb62c68bf CLINVAR:2123722 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12cf7378-54a7-40bc-976d-0d6a487de2c8 CLINVAR:2123722 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde05246-3430-48b2-9ebf-8b1d7ea8c41a CLINVAR:2420457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c0baab0-55d6-4ff7-b752-180bb7d5561a CLINVAR:2420457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2042315-c5a2-44fe-9a3e-a73f16c63fe8 CLINVAR:3343122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49ad28b3-e2ba-4d93-8ce0-745b94fa110f CLINVAR:3343122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d234bc3e-0a20-4d98-a39a-634a4e7cdc36 CLINVAR:3351124 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dd3d507-bf53-4c28-8ecd-3143118ca885 CLINVAR:3351124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4afa8c3f-eda2-4cdc-8095-3d3b08360a95 CLINVAR:897696 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7bd6b8b-8574-4bd3-81ed-8452b61329ef CLINVAR:897696 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a4ed27-2cff-4451-8daa-88582859652f CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d237e0b5-c456-4c94-b4be-8ebe09ad9705 CLINVAR:2851140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d63387-23f0-4f83-880f-d42e85d4611f CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77b419cb-11c6-41e5-bab6-b07fac1fe498 CLINVAR:3067798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e0b3eb-13ca-43ca-984d-4115ae594a59 CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 180f5694-ed50-46ea-a735-2601dcf1d611 CLINVAR:2631353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027b73a8-f644-4de9-95ac-ce109c97e22d CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fdc1dde-01fb-4516-9263-b45bf9bfda9e CLINVAR:2844927 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd8d130c-c4ec-4c08-af65-4530c6986d15 CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6303ee4-5de8-4148-90e9-67c728760488 CLINVAR:1299484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b02685-7c30-40e7-ae45-194c7cec836f CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 738209ca-fc34-4d07-a8fa-2289ecd9b79b CLINVAR:2501756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a134c9e9-8f3e-43d7-9451-be89ea05b876 CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9acd4d3-e75e-4d3b-a04e-a7ba84ca7302 CLINVAR:2799017 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe9fc03-db74-471b-9bb2-0d5b42d13a47 CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e192dbf3-bfef-406f-a59b-b973a0390433 CLINVAR:2852907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601d38cf-fa1c-4d21-ae5b-44558a231247 CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed6aab82-b2ab-4330-bfd9-4f0361edc359 CLINVAR:2997653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8841efc-240d-4e14-9ba0-0574ebff2d26 CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 297b3354-30d2-4ec0-9af0-00d485b77d46 CLINVAR:3240390 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8c004b-2268-4759-bbd1-5779ec62fd84 CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 737417e1-788d-4c52-a894-b8fb28bc6688 CLINVAR:2717092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77693b72-4fe5-4379-b542-0c3679c07a11 CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52fde183-3501-42d4-96bb-83c7f656b7aa CLINVAR:2632141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da3e308d-d283-4919-b1a5-fb5cfede78ea CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d003f0e-5d4b-4799-9d99-fed880f2b82f CLINVAR:3370501 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116b20cd-1759-47af-8655-4c87afdf8647 CLINVAR:1016211 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55361792-dec3-49c9-bb61-2e036c0b51f6 CLINVAR:1016211 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9653ac-576f-4be1-893a-1c0994687eca CLINVAR:1512844 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc3600f9-9575-44ed-83b4-240a0966b229 CLINVAR:1512844 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898a7240-afeb-4877-8d66-d9bfddc010b9 CLINVAR:1412137 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58093b83-dad2-4aa5-a798-b8bcd4a4d0b3 CLINVAR:1412137 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35b7cc7-4de9-46be-bdfd-7f818931db42 CLINVAR:1494340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 166bb668-eeba-43d5-b2ed-2204c107cefc CLINVAR:1494340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9525ad78-8a97-4cbe-8f8e-b06d32631906 CLINVAR:964573 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7812ff8e-2d91-4fe2-b3db-b98af260c413 CLINVAR:964573 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ea8328-bd41-4441-a86d-ebcb8776fc7d CLINVAR:1042591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b65585f-5097-4c86-b583-634c378806f1 CLINVAR:1042591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93eadcf1-bcaa-45ec-92e0-41f45a2b576a CLINVAR:1055781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40d9c617-d6ad-483c-8f4b-e3d802617a00 CLINVAR:1055781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875f7760-d670-4bd3-a743-1b26333b4be2 CLINVAR:2096033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fb1c8a9-34d2-4c43-86c4-90268a9ccfe3 CLINVAR:2096033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6766068e-020d-455f-913a-ffb5a63fabc6 CLINVAR:1491076 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1acd1c17-8e32-47b3-8f39-f1aa0713e46e CLINVAR:1491076 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e4df40-9a09-4683-8485-3962c88db678 CLINVAR:2758444 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b0b0ddc-dfde-46a9-a08a-64652b80d0ef CLINVAR:2758444 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9843121-034a-4786-ab5b-3a432cb242c4 CLINVAR:1515908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e2d42d3-c207-4fc3-a0cd-7d7174dca0ae CLINVAR:1515908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00036227-e1c8-4755-b8b7-2ed76ce2d696 CLINVAR:2860395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4532f917-ac81-4601-8df9-d308ce8e320a CLINVAR:2860395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce5a236-918b-4cd0-acd9-66b21f252f71 CLINVAR:2792019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7daa97b-6903-4564-8313-13f3fc370c95 CLINVAR:2792019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 706227ff-c862-4a28-a81f-afc4f283323d CLINVAR:2765874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 907832f2-0f54-4f6a-b5ec-2d44dd08b390 CLINVAR:2765874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f699c3-9275-4ad5-93f3-787656d6ef7e CLINVAR:339840 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 114f333e-59d3-43f2-b715-981950b8689a CLINVAR:339840 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa83bc6-42af-4ec5-b57d-e34a43811687 CLINVAR:3240387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06a8dfd2-ee99-47f0-b68c-88445c4cb65e CLINVAR:3240387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd6c220-5618-4971-ae7a-0d7ba32d5b77 CLINVAR:1063856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73695e2e-c055-4e55-880d-bccd2ce5c7fa CLINVAR:1063856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b19454c-cf0d-45d9-858e-14e1e8ee7be7 CLINVAR:898791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d9fec0b-5b1f-49aa-baa4-cf4009dd8a3f CLINVAR:898791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59918fe2-9b12-4877-b217-d381540381dd CLINVAR:896106 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a901ff4c-4adb-4251-a5be-98d2a5081314 CLINVAR:896106 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644456ee-84c7-48fb-b78b-dd2f699ffa70 CLINVAR:2783241 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8a50d6b-c5c3-49a5-b1d6-cfacdb8b782f CLINVAR:2783241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7baa348e-ffb8-47ce-98e1-eea406b6363e CLINVAR:895824 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6c14cdc-aaf8-4188-97ae-d1471fb9f5e1 CLINVAR:895824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d37f4b16-f896-4d89-a6a1-9f9d9cec2681 CLINVAR:339836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f7dbb33-f634-4706-a0fa-9fd09916ddb8 CLINVAR:339836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478782e2-92d6-4a94-984a-d02c0fdcb0fc CLINVAR:1701963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee4f2601-39e5-4512-b34d-791ef352edd5 CLINVAR:1701963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 653b6434-008c-4c26-b3c2-4399aeea4965 CLINVAR:896107 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4753e550-0115-40f5-a6b6-9057ad6796fe CLINVAR:896107 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c041c205-6326-41ee-a3fd-82f1d2dbb433 CLINVAR:895756 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47bbdb52-f6d2-4fa9-8011-564e4c66fe45 CLINVAR:895756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f6b51a-9e20-4c68-afee-a4c060677ae2 CLINVAR:339826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2101b55-1f70-4f5a-af0f-6da7a8daa1c1 CLINVAR:339826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833617fb-23ab-4937-a49c-c158d2522f9e CLINVAR:2752645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12c2f4f6-8eb7-4dc8-91a8-5b08a232bfd9 CLINVAR:2752645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f57398-7c78-44e8-ab66-5ca1babe9a61 CLINVAR:2915634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abc9cb56-03e3-465e-9973-9fa393cdbc45 CLINVAR:2915634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693b7cb7-9fa2-4e64-bd14-325c84c36a86 CLINVAR:1002392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39e3c4a8-b44f-40ff-965f-618488513fb9 CLINVAR:1002392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f92123-cd31-415e-8317-48e174e49d73 CLINVAR:2750603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3287956-9770-417b-9467-e5550f6724c1 CLINVAR:2750603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca850b6d-b0aa-42a3-b80c-39bac4100b05 CLINVAR:962238 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5aa023b7-1632-40fb-b4cf-9cb337eb2059 CLINVAR:962238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4813332-11bc-4c0a-ae9d-065ede9debe7 CLINVAR:1002692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2aa43b0f-0064-48ea-844f-daa05c768ee7 CLINVAR:1002692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 048a0474-3bea-4b34-9fa7-349b78ef460e CLINVAR:2715219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb0e385d-b063-4380-97c5-227e75530863 CLINVAR:2715219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c8884d-220d-4d43-9b89-076f08a43c37 CLINVAR:1433502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 835644f9-fffa-459b-ae76-7101b537dd73 CLINVAR:1433502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d94fce8-190a-456c-9060-82f017d290a5 CLINVAR:2887997 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee1de939-9488-4a5e-9ee6-40859729f881 CLINVAR:2887997 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd92e9a1-5a40-454c-a747-7bd6f0b807cc CLINVAR:2810497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e926325-9ead-458f-9480-ad76d87fa689 CLINVAR:2810497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da698f24-0ffb-4f28-a55a-a6a40ef110c1 CLINVAR:2965488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bf95559-0f55-489b-bce6-90cf27d1c20c CLINVAR:2965488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350c7eb6-a439-49a5-81d5-408f2697712d CLINVAR:2738452 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab599441-dc35-4247-a420-e42878de38f5 CLINVAR:2738452 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a748daf-8ad0-4743-ac8b-137f977002e2 CLINVAR:962783 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75e936e9-f39c-4be7-ad60-6dc1d79d1846 CLINVAR:962783 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49701b7-bfb9-42b6-9712-3ff5e63b9535 CLINVAR:2397690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5424de80-83ed-48c7-bd20-b68a279438c7 CLINVAR:2397690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5aeab26-8eee-4645-82d1-ffc542e03c35 CLINVAR:1018236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9e8cb7c-e2e8-456c-b48f-ee679d421102 CLINVAR:1018236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d8541c-7782-45e0-9687-71e490b00a1b CLINVAR:2113692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cac6fcc5-0a6a-4e1d-b846-4438a3777803 CLINVAR:2113692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44cb6b83-f159-4599-9be8-2c5164e5db58 CLINVAR:1036138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be1215b8-9861-4035-b915-63b54f9461c6 CLINVAR:1036138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb6fe63-326f-4912-a34b-28f6c683a4e6 CLINVAR:2067605 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4d05607-026e-493a-92ca-210b219de872 CLINVAR:2067605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f158de15-6d0a-4526-9a5b-f263320c65e2 CLINVAR:1019366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b245065-e774-4f2b-bd88-57e86cd9e69a CLINVAR:1019366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9027ee02-ecda-4ad9-a4ef-79c0f26781c7 CLINVAR:944258 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d1baf160-4bc0-4cc1-84b2-17d9daff18a8 CLINVAR:944258 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc159b38-3004-4bed-9b9d-f36b7e771ee2 CLINVAR:3240393 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83cdff1b-f492-4bfa-b02b-6a46eb2a951b CLINVAR:3240393 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261ab334-23b0-4e69-a5b2-6efd9651a41d CLINVAR:1580855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b858659e-0107-4d12-b24c-9d9399bf8c47 CLINVAR:1580855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce77ace1-4602-47c6-992f-2d169595b05d CLINVAR:1056713 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e107ca08-0f84-4214-8e93-c6e51e26f72a CLINVAR:1056713 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692ca167-61f0-4761-8c86-6ebaa02a2b59 CLINVAR:1635761 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9aa32573-e276-411c-b7fd-9bfb9a249d67 CLINVAR:1635761 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bc6ea7-d78f-431c-8167-9a0416a10059 CLINVAR:3240388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6332be65-844e-4c7a-ab58-dee8b8b61df1 CLINVAR:3240388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5891516d-213e-4d42-bc2f-e9128b6bc734 CLINVAR:2770886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6a0b303-b2b8-41c9-9a19-b57f4ff241e6 CLINVAR:2770886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 729f43f6-6b7b-470b-980e-be7e100de5d4 CLINVAR:1010308 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f16bdd8-0746-44b9-83a2-efb74b5c3859 CLINVAR:1010308 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f27f746-46f2-4ba3-a450-2d6bd2213efd CLINVAR:2850038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 159fdd84-770e-48cc-9ca1-9b78733bb6a7 CLINVAR:2850038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff633e2-14e4-4479-82a6-f042bb900f4a CLINVAR:1971169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d57936c-886e-4c05-a75e-1bd7357dd71d CLINVAR:1971169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71dfa65e-d5d0-4832-b703-493c9f0b0b72 CLINVAR:2823312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fcad6f7-4ba7-46c0-a915-8605456f50f7 CLINVAR:2823312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e5b949-497f-421f-82b9-3e9d6d0545fc CLINVAR:1037280 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1433181c-d1d0-4643-ac6b-6c9803c4060a CLINVAR:1037280 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ff45be-10aa-4d74-b778-b98462bf423b CLINVAR:2714614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42b8e7ad-f8e5-45ae-a572-bbdce5285926 CLINVAR:2714614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e0e7d0-0a97-48e9-bb30-5fe23e47d71b CLINVAR:850021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5d24c08-17d0-4fc1-aeb0-5d3c906704e2 CLINVAR:850021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137b753a-bb0d-4e1d-968f-f3e7cc608400 CLINVAR:2805569 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd5297cc-ded4-477f-be79-6ec7298ea634 CLINVAR:2805569 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83638b11-b39d-497e-895e-7eff6b47f028 CLINVAR:2759147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05a40ad9-44fa-48dd-be79-16d2c1f9236c CLINVAR:2759147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26761fd-f236-429a-b376-a1accbc28079 CLINVAR:1590532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e7ce164-ead6-4b97-a652-da2b86a6e5fb CLINVAR:1590532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d873c20-163e-465a-b8c6-931438227eb3 CLINVAR:1004142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e37da000-48a2-4069-abbc-23fe2e71f620 CLINVAR:1004142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587c1148-88ee-4d8e-a417-de07f4ecf513 CLINVAR:1043154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0778622c-9322-4981-896f-6833d727939d CLINVAR:1043154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d53f805-8b5d-4f67-ab5c-040b9608035e CLINVAR:1996609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e38a016-18e7-4d05-b7b4-ca4567966846 CLINVAR:1996609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0812e68b-c6ea-42b7-acf5-509d1abc2a81 CLINVAR:1039682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 450553c5-e9cc-427c-810d-d9a10841d458 CLINVAR:1039682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7a3eee-0da0-4d6d-beaa-9ee2ea86a9b6 CLINVAR:2996309 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9a38e5a-b122-4ce0-b044-06667911426d CLINVAR:2996309 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5399c8-d5ad-486c-af81-704b05c0c0ad CLINVAR:2717142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85780fb4-0961-4a8f-8ed5-97cc6d2b05e7 CLINVAR:2717142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57bd671a-f9fe-4013-ab17-f890dbd51635 CLINVAR:2717108 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7014d21-cd6f-4500-b4d6-4a15f1c61827 CLINVAR:2717108 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945e497c-dd3b-4f7d-8b73-536396123d33 CLINVAR:2678497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2eb36749-1ba3-4ae7-97d0-6692dbfdd303 CLINVAR:2678497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76268434-5ca5-46b2-8e0e-cd71463e4cd5 CLINVAR:1945048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b32ae8e8-da1a-4d61-9fdf-3e19151a047c CLINVAR:1945048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b783a2e-4770-4b0e-a91a-36c71ba87765 CLINVAR:2822749 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4caa1728-6c88-46df-8da3-168f87cb2ba1 CLINVAR:2822749 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 740cbe66-542d-40da-a0ca-8fa4743d44c6 CLINVAR:936854 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38a4e26a-c154-4a9b-8620-619f2cb1ca70 CLINVAR:936854 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687f9c8a-e227-4e51-aa4c-32d2be8478a8 CLINVAR:2863363 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6eb9c5e9-b0ad-43b8-ae53-cdce94b46ea6 CLINVAR:2863363 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a897d1-d75f-4b34-a4a8-500ae883a4f1 CLINVAR:2091961 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a2919ba-072d-4792-9a22-c8efec082275 CLINVAR:2091961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5212fd-83ec-4493-82a2-00813219faea CLINVAR:2866349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49ff7e6f-4f17-405b-b075-8ad9314e9e33 CLINVAR:2866349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018a3583-b0b8-42d3-8628-596ba176e612 CLINVAR:2718922 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97a71f09-7fe2-4d00-9fe5-1e39ddf27015 CLINVAR:2718922 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2746553f-3084-4ad1-a003-950264e5ebf5 CLINVAR:2912549 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cfa5cfe-0bda-4400-8545-1359284d9b72 CLINVAR:2912549 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00383dd7-327f-4335-b212-4912268d7557 CLINVAR:2799969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27406de8-da99-4992-b2ee-9aca1108ff64 CLINVAR:2799969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6114013-f4fe-4ddd-bbe8-a148ffffa082 CLINVAR:2995907 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30bf3f3c-a54b-4094-a9e0-7ccca721940c CLINVAR:2995907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eca15c5-34f2-4539-bf58-70dd5ac99308 CLINVAR:2035147 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2516051d-5a96-43f7-9d89-aa9cc93b20bf CLINVAR:2035147 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4609e54-983f-453c-83d8-505ca03ecb29 CLINVAR:855262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27909e47-7156-4663-a98e-adb8fedfad23 CLINVAR:855262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83ed5b8-8245-4f51-be80-7dcaaf9b5e9e CLINVAR:2428796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a218f4df-1de4-4f77-9e07-87b4d7cb96ca CLINVAR:2428796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf88870-d86b-48c0-abad-f2b16290145c CLINVAR:1508015 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 065e1b9f-1d16-4e16-b8c9-1f2c4e391992 CLINVAR:1508015 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd36c83e-555c-4aee-adde-e1980d5ca85b CLINVAR:464010 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f2cac77-11c1-4c92-90de-547698712625 CLINVAR:464010 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e372432-a924-4b56-8ec1-93efe75ab7b6 CLINVAR:463978 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e827b19-c12c-42ff-a2de-6522fe3cdd2b CLINVAR:463978 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43afe23e-cb63-4fa5-b46e-420eaafd4b7d CLINVAR:2201687 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 293f22c4-4a4e-4cc3-a340-8d5ec0e621c6 CLINVAR:2201687 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705821d9-989f-4da4-827d-9a10fa304549 CLINVAR:2198524 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c50c399e-aaa8-4683-87b0-cd69aa8de899 CLINVAR:2198524 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03051bc-3ee8-4fbb-8f62-7277f99893ce CLINVAR:2163488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abc48270-9800-4e77-aae1-a83b67f2c1f5 CLINVAR:2163488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eb76416-9ef6-470a-8809-b23e832eabf5 CLINVAR:2161020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6fb0d6e-105b-469d-be4b-a624f9706068 CLINVAR:2161020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01cae2cd-324b-42ef-8498-b9233fd3fe6a CLINVAR:2156664 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e591b3c-c89b-4270-8e5a-6c9202ef6d21 CLINVAR:2156664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1482015f-29e6-4e9a-9939-0d9d7e8b12d8 CLINVAR:2834944 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f93fe4a-b00e-4fa9-8550-43a62b692928 CLINVAR:2834944 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f4c1de6-ef67-457d-bf05-a69e27a1de83 CLINVAR:898914 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d317532-7ff0-497b-a41c-c396434aabe2 CLINVAR:898914 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d466aa-6c9f-4ce9-bbc9-9d83e706ec88 CLINVAR:1479269 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af311a8d-c2de-4b63-b660-b0abfc1b34fe CLINVAR:1479269 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9032abcb-8006-42e5-9807-04fa6c496580 CLINVAR:1025603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ae0b213-c475-459c-ae27-d40f954da216 CLINVAR:1025603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7b6898-e3dd-4da1-a7c3-31447db968fe CLINVAR:2099170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cca7861-ba12-4b2e-b464-dda320b7b022 CLINVAR:2099170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48aab9c7-6247-4d2e-a5d0-65f14a0fcbfa CA410202527 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4219277-fd53-4f79-92ae-4f4a784146e6 CA410202527 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a46ce9c-e2dd-480a-9a3f-69d56c1a7a46 CLINVAR:2268033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5adea317-2741-4438-a6fd-a779ae9481a9 CLINVAR:2268033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4276736-657f-4603-bb87-5ff59f1fd83a CLINVAR:1547462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fc8aa48-f184-4e29-b5a4-32f0de52b0f9 CLINVAR:1547462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e6be622-41b3-4684-bdb3-fb4342344ac3 CLINVAR:2761026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c99e9d38-5dc2-43df-8283-8ba93457a88b CLINVAR:2761026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254207a7-bb11-49e5-99f5-8e28b6cb0453 CLINVAR:2805962 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ba195ff-4b0b-4666-ab93-bc1cdc056aab CLINVAR:2805962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f676b3e-26c5-4391-a5a6-188bc4c96023 CLINVAR:2769230 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4535b3b8-bf0f-479c-9c3a-97ae3c9f1be9 CLINVAR:2769230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fb75d7d-46d5-4b02-88e9-ac4eed5ea0bf CLINVAR:2633656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fef4b2e1-ad1c-4186-8c67-29ae921bb910 CLINVAR:2633656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9681fb8b-7935-4ab8-8177-fde1596d37c2 CLINVAR:2443682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54bdb34e-432a-4143-8ca5-6194ddd98205 CLINVAR:2443682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 294b12b9-4270-4f19-81d7-a6cf50da3c7c CLINVAR:2108059 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26d192a9-03d6-4d11-8fcf-30dbe71be228 CLINVAR:2108059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f302e33-8bb2-46cb-b378-ddff1cf3eea9 CLINVAR:2580053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb6e7fc3-6556-4034-8a3e-24063db2e489 CLINVAR:2580053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bda6d3-d294-4946-afa3-c65f95fc8188 CLINVAR:3068220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f039e3d-71c0-4587-9418-71f9cd32685e CLINVAR:3068220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2266e67-5afb-4535-aa94-04a7b639b918 CLINVAR:2628467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90e64f8a-4384-4a8f-923e-d02e35d42265 CLINVAR:2628467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6344c9b3-89fb-4c8f-8cbe-6fa58f5efa59 CLINVAR:2910839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38cdbfa6-63ce-41fd-8b11-1203342ce760 CLINVAR:2910839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75e7176-265b-4b95-9213-bc9a8e8c64a7 CLINVAR:1040026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76014ddc-9ace-410f-9d1d-49a759157b30 CLINVAR:1040026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c62b504c-42e3-44a8-ac93-70b4694f1942 CLINVAR:2126813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 643e447c-5948-45e2-a7a7-baf7ba5f7054 CLINVAR:2126813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5957eee7-e092-43c3-9744-fc72f024e345 CLINVAR:409808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90310355-cb0d-4cc7-9a8c-62648298aef7 CLINVAR:409808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e112faa8-070f-4f77-98a6-9fc6aa4c13ef CLINVAR:1012104 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 284d927f-972e-4da9-82ac-923de78d1c6b CLINVAR:1012104 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8b9164-88e2-401f-b2c5-f9d36c854fbf CLINVAR:1466051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38625658-0d79-4c2f-8e26-2633f882950c CLINVAR:1466051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 331dddb9-e390-455f-a0d2-d3aa50f5ea91 CLINVAR:856798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ae29b75-fcd6-4137-9f34-6577a302cda4 CLINVAR:856798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e60917-283e-48e3-8a34-57571d3a969c CLINVAR:1684391 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82db8b4d-9f8b-4215-a925-cac9bcdd0df2 CLINVAR:1684391 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac850c84-3db7-4df9-ab85-1ef32ffe80f0 CLINVAR:2091067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e50ec073-d3aa-4a9e-a49a-2b8b74ee0952 CLINVAR:2091067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09118fb9-d19e-46fd-8d51-0d3027678f84 CLINVAR:1439261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59988f55-0689-4a22-a271-017da57a17f1 CLINVAR:1439261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51b1269-4a4c-4061-ab6b-d15891a54e0b CLINVAR:2678492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 667ac884-c488-47e6-9af6-a6e7f852e9df CLINVAR:2678492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02e555b-97a3-4676-8cb7-b74f79cc1c8f CLINVAR:2023119 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen befdc9ca-34d9-40d6-a589-19fd71c3c426 CLINVAR:2023119 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8955442-e3ad-4312-808f-af4b6c85034c CLINVAR:2767710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 901ebef9-0a25-4279-a077-78a5cab1dc8c CLINVAR:2767710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953516f5-b188-4e8e-a417-731044eee80d CA410148836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90fbd534-762f-475f-9a8b-8e5bcba9c740 CA410148836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c783284-a43e-4358-8cd4-84f2b6df5118 CLINVAR:2697219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00760666-f83e-4882-8696-1e0b0e852e89 CLINVAR:2697219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20382252-b25c-4ad0-b204-ad144eb2b806 CLINVAR:440678 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcfa8997-c308-4701-b0ac-991ac32fba8f CLINVAR:440678 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb76019-0484-4dc6-9310-a96824697a6d CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 990e84cd-1e15-40e4-b6f4-d67063a69159 CLINVAR:252213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1bb9a1-ff2b-4652-a1c5-ae5e807dc045 CLINVAR:375833 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83d31cf0-1f0f-4951-b1e9-7d07fd826ec7 CLINVAR:375833 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 829a6ef3-18b4-4a9d-bae0-faa1b1f42949 CLINVAR:183132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2eef7e8e-fd32-4f16-af86-b3910d78527d CLINVAR:183132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cadaa27-f9b8-4537-9fd0-457893ae967b CLINVAR:250960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7db17c4-d16f-480e-9931-de870a5f037a CLINVAR:250960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b4becd-7459-46c8-b19b-a0c7042ef0d0 CLINVAR:440624 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee69e764-07f1-4e26-96a6-1c8999b3aeaa CLINVAR:440624 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a5965a-c5c5-4c65-8f34-c3db0f719c46 CLINVAR:523715 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f71df60f-1d80-4f9f-a67f-4d0a7a5d4f55 CLINVAR:523715 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7faac5b-aa2e-4f46-b70b-3233ef8df29d CLINVAR:251853 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f484a413-8f84-4a16-898e-0d46738976b6 CLINVAR:251853 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d358af-5935-460e-91b1-df534ed3bb4d CLINVAR:251852 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a66593b8-68b1-44e7-8a2a-38644cdf6d26 CLINVAR:251852 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12376c1c-93e4-4b89-ae0e-b497c6fb0c02 CLINVAR:252269 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b4dd471-686d-4490-a1fa-44a59b537c57 CLINVAR:252269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dae8e64-5e23-49fb-b147-3f4e30bfabd5 CLINVAR:252267 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7855dcfe-6ca6-44a1-8aa5-87969f60d707 CLINVAR:252267 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c84c2323-8da7-4647-bf90-59bc0256786f CLINVAR:68099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cca2379b-fde1-497e-94f8-7673c302d54c CLINVAR:68099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4199ce-e0f7-4b46-bfbc-a39d620481e3 CLINVAR:251037 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9825fda-5a5c-4508-b6a6-708f964afc07 CLINVAR:251037 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3855bb4c-e148-487b-b2ff-fd5b78fcdb17 CLINVAR:425706 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26912418-94f6-4dce-b750-0bb17340770f CLINVAR:425706 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21effaa3-a2d6-4c20-a975-77e0dbf18c0e CLINVAR:425707 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48ac5f8a-6da0-41b9-a8b9-80a620a6c9c4 CLINVAR:425707 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2109fa-c4af-4e4d-bbe8-17fc5f877933 CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c594195a-56a6-4200-b7e1-39b5ff3bada7 CLINVAR:425906 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ea0cc4-4786-40d4-b5e8-3734f61aa94a CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da9366d0-7067-4584-9628-7e94b9835593 CLINVAR:933084 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6918ce-b5de-418c-8cbf-90b1f6827272 CLINVAR:412136 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5fb3427-8b99-41f2-bb3c-4c883139789f CLINVAR:412136 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd0d5c4-c4f9-4c00-9522-554e2d27d06b CLINVAR:937744 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0da6d06e-b02e-4925-b926-c57c3b726af0 CLINVAR:937744 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d1fc1f-d098-4032-b277-6e7b40b14679 CLINVAR:479637 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d39b3ae2-7cf7-402b-8e5c-c8b25c82659b CLINVAR:479637 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25529a89-9bc3-408e-baf8-0b9854e682c9 CLINVAR:479642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6328ac6b-4fbc-4ca1-89fa-2b32c0946efd CLINVAR:479642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d84555a-8474-46ce-a39a-3cedf185f115 CLINVAR:854954 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86cbb351-d009-4018-b7eb-5c1eb15acbdd CLINVAR:854954 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d940a65-4c2b-4cbf-b060-1b819f99c19d CLINVAR:92270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c4e2d31-4dbe-4d16-8099-51ad77e19f42 CLINVAR:92270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216543a2-ff34-4ee0-b59e-47aee6074b70 CLINVAR:1336989 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0b69fa2-de54-4c8a-99e4-408733a80e63 CLINVAR:1336989 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9edb4e7-1ab6-42bb-b82b-d55a46b051b7 CA409108333 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen badde04f-f69f-4368-ad7a-f63164050229 CA409108333 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4ae3f4-d358-466b-bcd5-119002c088a9 CA409108330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ca6be67-2689-4431-98d1-dcf7bb24bc15 CA409108330 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb93052-a6c4-4446-bbe1-f1b195afb466 CA409108715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06ea32c4-5b42-4cca-8185-ca5e201da5de CA409108715 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36af88fe-c331-4b04-81d0-54cc083c7bd7 CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1de1b8ce-3284-46d5-b5f6-0b7cf27e73e4 CLINVAR:1700658 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da89cb7e-55bc-417d-a75a-af0f74ccd14c CLINVAR:338422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a79bf40-e557-4d4b-bd4f-c204284d0158 CLINVAR:338422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c10969-f5d2-4225-b178-727df1326101 CLINVAR:447519 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21bf22d5-305d-4e7a-8a9b-7b58ee0be111 CLINVAR:447519 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c5809c-80d9-4a53-8e36-a2612f8cc96a CA409108257 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebad1e7d-bd27-4a8e-91fc-73f6c702484a CA409108257 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cba93e7-8a78-4d25-bc2a-39132f5cff54 CA409107449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ceb60d3d-4ba4-42bf-a747-7b30ef145b00 CA409107449 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbe37c4-fc8d-4ded-a428-e4b0568dcd7a CA367400147 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3d980e8-5ee6-4ce6-9253-e74a016af2a0 CA367400147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2490db-7e01-4300-a22a-a15dba2d5352 CA367399714 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7410dcd1-2250-4bb0-8b36-0038c3d929dd CA367399714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08a7b8c-f514-493a-b36e-76405c8fd1ab CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98ffb0d3-eca9-4f96-a5d6-5ae253b5217f CLINVAR:585929 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70aa620a-0cbe-4b62-a4d0-8660b047d174 CA2695202957 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a2b8413-b127-4c23-90f5-e6cc35968ebc CA2695202957 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d3ef98-1225-42e4-80ad-5ad19bbd5bef CA367398584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81112092-5b06-4c60-baef-9a54813ea662 CA367398584 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26ef3fac-08d0-450e-aac9-fb7b41bfa75b CA367401330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22cfef62-5557-4619-8ff7-88d81458f2ea CA367401330 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5336e52b-2760-4488-aa29-344370ab7976 CA367401332 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abc51229-8e8e-42ed-a9b5-98eca92c17af CA367401332 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1e1fde1-67cb-4955-aff7-f8861cb2719c CA367401327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13545eae-7e53-415d-b4c6-4309d15cc676 CA367401327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09647fc-bfdf-45d1-8996-8197efee3ffe CA386960233 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f42092b-0aac-49d5-92b4-14b57d172dc1 CA386960233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8492d88b-2d4b-4417-8f86-8511bf40266d CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73f32429-547b-4a8e-bdc4-d8d396b9ba3e CLINVAR:1317657 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d66e1a8-eff6-4a37-b09e-76420c82dce7 CLINVAR:1807441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a98db5b-4b09-4ee6-b2da-dc0e2f779e38 CLINVAR:1807441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57152cdf-e7f0-4525-8565-86d26a69228e CA386960365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f469700a-b857-4ac6-87ab-5fea20142908 CA386960365 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74d41e4-c671-4d62-9336-f27702863794 CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 320f8539-eb50-4ea6-a6e6-990082ea8571 CLINVAR:1338456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a3247a-6b03-4ca0-9fb4-e3bc505b215c CA386960575 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80767ae1-d9de-4887-9860-86d231e94e64 CA386960575 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf98172-fea9-424a-9a63-87597205b481 CA2580612112 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 175cc606-dee5-4dcb-83fa-c8d86031d081 CA2580612112 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27929c2b-d6ac-4dc0-98cd-bd982a95d443 CA386958912 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ddadb8be-2c89-42ae-9716-5b7459c8d5c2 CA386958912 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167bc8b9-7601-49ae-a066-7d26bbec0ff4 CA2580612109 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9f01fb0-1119-4ed3-bb06-6e8847ae4375 CA2580612109 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57376b96-bba8-4862-932b-28d54e41c464 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed4a9420-08f1-46a4-a0fa-6d6ad3bce995 CLINVAR:586791 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7e16a2-4b8d-457e-afdb-e9ccb18d6fe3 CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93970c7f-c4df-41e8-b2e4-6cdf4b71cc63 CLINVAR:92301 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aedbd4b-f039-421a-a6a3-c8879646fa9d CA347215735 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f468f4e9-56bf-40a9-b60b-23a06406586e CA347215735 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b520581d-ba2a-47b2-bab0-7158999d8aa7 CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61e7cf1f-77bb-41a2-9583-a1c264d8ff84 CLINVAR:596790 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3a3a3e-882e-4aa4-8e94-b82b918d7d4a CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9398ee68-dca2-4f77-bcf7-7d916ae67fef CLINVAR:98582 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ecba9a-a95d-4c70-b4aa-f425069f84d7 CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cad22f59-74be-4aac-bc48-2bdb11f01567 CLINVAR:98610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a54f46e-19a3-47f9-81b9-6c7d52a90827 CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3d8878f-abc0-4e28-a954-bdc6c497f69a CLINVAR:560463 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a15da91-88e6-4bd3-9c8d-d527fadbf0f7 CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d9bb015-421c-4945-b64e-f04a25942d84 CLINVAR:2137915 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b1562e8-932a-412e-817a-cff798097657 CLINVAR:423435 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12180f0e-a24e-47d2-b89d-4ec203af8be3 CLINVAR:423435 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54bb321-17c7-45f8-9a4f-99dc4dd73be5 CLINVAR:859216 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 30c64a8b-2eb9-4a8d-90dc-5c89d93220ba CLINVAR:859216 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cdde367-0a49-40f4-a3f3-fa0aa644868c CLINVAR:1001416 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0834651e-7cb0-4f65-b27b-03c42b42cd55 CLINVAR:1001416 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4fc839-e52d-4ae3-94f2-c8956457701b CLINVAR:198055 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00dc880e-626e-4a27-a34c-84d1f1251a34 CLINVAR:198055 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a05f60-f7bf-499e-ace2-6161724525dc CLINVAR:803314 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8f41fff-61d4-4a1f-a722-3bb85ce87beb CLINVAR:803314 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044c3e2a-79e2-4b6d-bed7-612ea4960f9a CLINVAR:98546 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 206249f7-a0be-475e-864e-6d4d8ac95243 CLINVAR:98546 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcaf05fa-9d96-46e9-bb75-ef0f117e1376 CLINVAR:98555 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8df6e59-3b89-45f2-b4fb-8e95be70f22e CLINVAR:98555 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bc0fe70-9f26-40f7-84d1-7a446b6a90d9 CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9eb97e72-f8ad-4b23-b215-f5c84f2bd01e CLINVAR:974639 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010fd9d2-1b43-4e34-8d7a-dea9107c1d98 CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73d28972-b528-4dd0-99eb-bc3dcdbe5133 CLINVAR:98611 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7121bcb4-0b8b-4bfa-93b0-95d1357cf3b9 CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a016090-26a9-49a5-bf73-4e30bffb89bd CLINVAR:1445009 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c6865a-59cb-4baa-b9a2-cc797ce99286 CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1894ff0-1cc9-4605-b359-fe6e7ba5fe07 CLINVAR:98584 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b8d8b6-feca-4c3a-8503-c0fb0f04d3fb CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f44fda4b-98fd-427d-8636-b18eee4ce182 CLINVAR:974655 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecac3cda-14af-4131-818c-75258cef3e17 CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 35ba8769-d3c8-4023-9a81-8c2847c3d5cb CLINVAR:98590 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c77d75-3917-49b2-8898-13b4679b7c95 CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e4db2ac-9247-499f-80b9-5b48be5a6f12 CLINVAR:98581 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32f1761-8b03-4d49-926a-d73bce88ef57 CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 855d7f37-ca51-4f82-8509-c3dbfa541d50 CLINVAR:98536 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73d6689-ed67-4942-a2a2-951209547907 CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac43c577-2f0c-4ebd-b6db-4951f35c6e64 CLINVAR:9350 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370d86f6-0b37-43fe-ab3e-23e48b9d5a00 CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ae40cd8-41e4-47cd-a8f4-eb9bc299c669 CLINVAR:638494 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b159b3-cfbb-4009-b1e8-0e7aca5731d4 CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f0c0776-de49-418f-9c30-a405165615b4 CLINVAR:98563 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b643e5d2-dcac-4612-8a73-36e5029cc81a CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28244b7c-a5d0-43a7-97e6-bab4e9833b34 CLINVAR:866048 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db3fa29-2750-48da-8bee-8e6bfbc6f226 CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f12b244a-f026-43d5-965d-3b43271d44df CLINVAR:98603 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c429ba67-8cf9-44df-80cf-afb9be90e429 CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 180a6229-3146-4376-9f70-9b10c651200a CLINVAR:98602 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137da0b5-dbf4-4b22-abfa-87107c0ddd3b CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f21f6ae4-58ad-496c-ac5d-4f3196a11c14 CLINVAR:803313 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcef72d9-6533-41a5-bdcf-3372913ef486 CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1cf066ff-ba33-4a88-bbe4-d6749fa679b3 CLINVAR:98562 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e837ff57-be85-44e5-9271-bf6c4a0b3696 CA8365937 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90990e9f-e7e7-45c3-b78c-73e99a8fc618 CA8365937 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 297fc989-f2e7-4f00-a6f1-138d11f9d68c CA397954516 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2717b867-3295-4ec4-b399-6ed751b7061f CA397954516 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f545e0b8-2302-4e94-9e07-882b1edc6058 CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33185f19-c197-49e1-872a-dac3917d5731 CLINVAR:581095 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 198ed014-2b84-4da5-b50d-0daf43f4dd30 CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63707294-07a7-4121-b8eb-daa8f8a6e087 CLINVAR:808220 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad6680d6-df82-4ff2-960f-5fc70d3e6d39 CA287523530 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8e8cdb4-2b28-4bec-90bc-b53c877e72eb CA287523530 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2394bcf-2620-4b14-afb3-ccddbce0a0c9 CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50c44be5-bc6e-4d41-8d20-5d7a3950eef9 CLINVAR:587413 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a19eb32a-a77c-471c-8632-e913e42b77dc CA397954276 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2725a2a7-222d-41f7-a407-645a7b38ef1f CA397954276 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd6c9eef-7823-4503-971b-0ae559b524c0 CA2695224294 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5f78c5c-0137-4681-a5cc-ed2f19147604 CA2695224294 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54740931-de1e-4d5d-bbdd-cb532a7b4dd7 CA2837582288 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2df3dedd-808f-4211-b1a5-8dabb8f4e291 CA2837582288 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0386a3f-43c2-4504-b6ef-78575f0a0ad3 CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1f3aa07-7818-4c6a-b900-d8a80a438e59 CLINVAR:861651 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b49798-fb83-46e8-9c23-9555853967c8 CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 338d9160-896e-4c25-8970-6a9d2f087e1e CLINVAR:98609 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855ab02f-50d8-4022-a19d-c1f309cf05ee CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72dc78d4-cf7d-4ce8-93fb-92bd2c5bf5de CLINVAR:98540 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0b7811-7d77-4b7c-a7ee-1fc3594f8990 CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 352f3619-0022-41aa-b420-9c082be105e7 CLINVAR:938393 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9113f0-aa92-444f-b414-18c689d3fff1 CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 306ba28c-cbd5-4310-8f40-22d5b93d43d3 CLINVAR:689384 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12be2ba3-b89f-4e89-a22a-651992424ed2 CA2695224281 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a70cdd10-b579-467f-b977-92c9dfc47805 CA2695224281 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb3e5820-45a8-4fed-a878-78f9561cb6bc CA2695224312 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd6c5cf6-343c-4962-8456-dfe7fc8a3ebc CA2695224312 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e282618-1237-40cb-9d58-8397aeed31ed CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6aeeb01d-319a-4834-af5f-86eb46e90a6e CLINVAR:665724 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6c7229-2754-4873-9011-7213075e84f9 CLINVAR:250928 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff58c324-2b59-43b7-9e7a-dcf6d4ba07ad CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0ac88ee-5d19-4c57-8e1e-4d441b532a9f CLINVAR:251792 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47f3bf1-8c68-464b-a6a4-f7464ca6f9ec CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9857eea3-fd93-4bae-b0b6-0fcd7c148c40 CLINVAR:251793 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a632e02-6842-4153-81a5-bc0730715050 CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94fb2168-0faa-4c87-98e2-e308268eaa57 CLINVAR:998052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d810a6-751f-4244-9735-ceb5a61b3a96 CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8985289-9cb1-4a97-a706-031e221e0312 CLINVAR:251790 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef95c0c-1c11-4ed7-b413-6adc2bbaae01 CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff4cf821-f890-47cf-a1cc-ed6383092390 CLINVAR:100287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da2062d-194f-4500-8619-c070b70e70cb CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66ce0ed8-51d8-4fef-b273-95fc43af04a6 CLINVAR:313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a237cb-fa74-4b20-a795-b47dcf6c92b7 CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d9a284e-7a18-4ab7-8b76-80d0e6b54f10 CLINVAR:317 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b87a826-23f7-4c53-bc8e-506d9c120976 CLINVAR:1684007 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7e42ee2-435b-46d5-9e65-294f386c860c CLINVAR:1684007 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85caa1da-aef4-42cf-a053-871368a7e0d7 CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c3205c5-bb50-4ac2-959f-f6606a1030fc CLINVAR:100305 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b374e54-3075-46e7-b8ee-890bac8e00bf CLINVAR:292 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ea8d856-658f-4404-b9f7-2769271f0c43 CLINVAR:292 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4568f13-7d1d-4734-b476-665b5c559781 CLINVAR:251826 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34a771b4-5052-444c-aeb8-096f717e9167 CLINVAR:251826 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67df1d05-3668-4436-b03f-8a733dee132d CLINVAR:251108 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 700dab31-5931-45b9-bad8-07d5ed9f827f CLINVAR:251108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9348e819-c4b9-4ae0-8f88-aa161f945c12 CLINVAR:250944 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 450fe6be-51e3-4517-b8a4-cf68a39a700f CLINVAR:250964 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 376cb1b7-9127-43a3-8808-22023ffb3a11 CLINVAR:250964 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113c9134-9f44-4ad5-a4f5-21b2343f8d69 CA397319701 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 837f98e8-db06-4161-8f3b-004dfe4ec724 CA397319701 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4dc0f0b-9327-402f-954e-d1b4f1634141 CLINVAR:585094 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bf67d7b-b8ff-43a4-bf6a-7a85ad762cbc CLINVAR:585094 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9848585a-a1d9-4cf4-950a-2cebcf399aac CA2580650458 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c3eccd7-c565-4ff5-b984-fb1f29936a15 CA2580650458 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a6b4408-5772-448a-97c4-d7362e94709e CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d12062cf-4706-4180-acb2-8afa13731ec0 CLINVAR:3690 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20839435-9799-4683-8f1a-12acc86089fc CLINVAR:375798 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4071c45-7e94-4530-b86b-70c997b74b7f CLINVAR:375798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b681f8-dd10-4625-a2ff-afa9e4651031 CLINVAR:252034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06a56dc6-ebfc-497c-824a-14de384edce6 CLINVAR:252034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c662628d-929d-4545-be01-05b1d5d090a7 CLINVAR:431535 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92a26143-6823-4b7b-8de2-0e8f573cc175 CLINVAR:431535 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e8bc4bc-d99f-4f62-90f2-01af03ae28d3 CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a12c12e3-f286-477e-bf72-67847ce68a2b CLINVAR:252140 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc47e06-eb61-4ac8-bd12-9d308c329647 CLINVAR:252354 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 036a76a7-1652-4aa0-98ae-e031c6b2f5da CLINVAR:252354 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5acbab-8d3f-4b47-9338-854536bc977d CA410677511 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3d232b0-0d59-4515-a11b-f22e8df3aaa9 CA410677511 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6944ab9-5639-4c60-bcfc-4355224a2df5 CLINVAR:1684369 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4efe1084-92d2-48f8-b2c5-7583286c75ac CLINVAR:1684369 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2719bb3a-259f-48a2-8c10-231c12bf454f CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfdb305f-ca70-4c26-a7f9-d336a058f562 CLINVAR:2137887 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579d3a1e-da1c-433b-b9ed-a29beb66c1ef CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26a1b280-e87a-4937-86f0-14cc624bc8a9 CLINVAR:435347 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba8771e-bc5e-45eb-b552-6ab4cfad29fc CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f899eb1-8f2a-4117-8b4a-149063ddc6f4 CLINVAR:1684365 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bbe03d2-61ec-4b32-b007-f2a7d7744b19 CLINVAR:449564 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f673d78-073d-4225-9ee4-96aad08a03b0 CLINVAR:449564 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9360a680-6453-451f-9762-6fe67c9fd1c7 CA397316321 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28af6142-7695-40b4-9dc8-994166ea7567 CA397316321 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c7883bf-0225-4669-aa94-d256fdbdc964 CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9f31989-ab24-4362-9927-812f61375242 CLINVAR:1691251 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b485270c-bfff-47e9-b2d1-4c50a398f47f CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 079184fd-1eee-4db3-ad07-ca6973800558 CLINVAR:1691232 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add4625d-d063-46eb-a1ea-b94e64a7400a CA410677679 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24a39538-d958-46ad-b921-5f170c9ef510 CA410677679 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8046edd0-6348-4cac-9d29-3a92f9e0cc66 CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03a9885b-2fc7-4c1d-be90-6d19a7fc51f2 CLINVAR:1691253 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec165477-48d7-4022-b960-921a93323b1d CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0357248-30a2-49dd-a933-c9133b0491c3 CLINVAR:1679210 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8da2aa-5897-49ba-8163-c0b4258eb483 CA322079952 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8753fc46-5e9f-4243-a182-de988d62dd8b CA322079952 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52f1f31-03fa-47cb-b0e7-ad2661f64812 CA410676622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fed5f8b-b573-401d-a193-3dc066a8385e CA410676622 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d3d94ae-0d2a-4b82-9f1a-39d2a53342e9 CA410676959 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 713b2a15-2de9-4b5c-844b-573aac042e36 CA410676959 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbfc7e7a-a84e-417b-8d6d-fd361c131dbc CA354447789 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 887ca971-45d2-4ba4-aa1c-eb6b47eabb44 CA354447789 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0224f64b-32d7-425d-9b6b-b7b811f6e3e0 CLINVAR:1691236 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92d51c10-5575-4dd5-b266-98e482d4577c CLINVAR:1691236 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678d661f-1382-4813-9fd8-3cb2c9df1832 CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d88d722c-41a2-4ddf-8c1e-c7eac29ee011 CLINVAR:13529 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8399e08f-adb0-455f-8999-2c45f0b7c3c1 CA658760369 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7577274b-4768-4dd8-9ac7-e2603b0d87de CA658760369 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d362b2-4703-4fbd-917e-324dbeab24db CA354446617 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79918d3a-254b-4535-9371-5106ae20f853 CA354446617 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37826e21-67c9-403b-8595-154c9f00109c CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55c9ebc6-319f-43af-88bd-967307102733 CLINVAR:627075 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b1921f-a791-4b0d-b30f-c7dcab11ade2 CLINVAR:812970 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0696fedf-c824-411b-8d65-fdaf2b5c94a6 CLINVAR:812970 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fbefe9-455a-4938-b7b9-e20ac862ae97 CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16a6d42f-f224-41e0-950d-9bfff9e45628 CLINVAR:16038 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8daf91e-44a0-4cfc-9e1f-f26907ed8d50 CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3507e307-58db-4c44-be1c-f88bb1c46d89 CLINVAR:872581 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a55a53-748e-4a9b-966d-abe8a2174b64 CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95c90d0e-28c6-4640-8a9b-9d10e9e9ac86 CLINVAR:2736403 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0ae419-b17a-4298-8916-49684586aa3b CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c514f298-da29-4eba-bdc1-0afbdcc17db7 CLINVAR:523620 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c037768e-876c-47ea-a5e6-abc8f86c30fe CA410676856 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c66532e9-6df3-4199-9645-829829e1f747 CA410676856 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494b1501-71bd-4fbf-b9c5-f74e222c0e68 CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d634c7f2-fa41-4edd-8fd7-8f8c002df491 CLINVAR:627320 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ffdf22-d6b1-48cf-9ac9-9710a554f720 CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f844c10-60b2-4b93-a3b2-cd8ffcf101c7 CLINVAR:1691254 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 731ee466-6926-4e0d-b6e4-c1c7b61a0fe2 CLINVAR:1342712 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b31882e1-6c67-4d05-affe-962997b9971f CLINVAR:1342712 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8056287c-07e2-4c3e-bfe1-4358db191c72 CA349036828 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ff901a7-bb2b-48d3-9aac-8a410040474a CA349036828 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25feb905-743d-4872-905a-56381ceb7195 CA349036836 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e34f8259-711d-490f-8a7b-1d1199bec5b7 CA349036836 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1adf21f-abdd-4ff3-bd0d-a0702c1f7020 CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7c93679-b2d1-43ce-a54f-91f624fccdd5 CLINVAR:383825 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1493f62-2473-4020-acf1-b909de06cf90 CA343772421 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5429a70-4937-4060-b4d1-46e8c84dc946 CA343772421 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1245077-c315-464b-8aa6-d03134f5a275 CLINVAR:627231 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 576126db-5dbf-4701-98b2-a0dc432b1f20 CLINVAR:627231 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa16c5f-ce65-4840-9d62-50f7193dc2cc CLINVAR:1127805 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3f65c21-14f1-43bf-bcf0-0640998e6d13 CLINVAR:1127805 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff7bbe7-f996-4503-9226-d0227554ea08 CLINVAR:18045 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05088dbf-846b-44eb-bd66-9c5bd8484c4f CLINVAR:18045 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ec639a-9bb4-4b14-9b69-f2ae43a6ec09 CLINVAR:440643 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc9ec859-9779-44b5-9e8e-9c6eb3707d99 CLINVAR:440643 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b67a9d2-5316-4c78-b700-7588b9422b1f CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc1a6d5f-2974-4e3e-8893-c5d42236c779 CLINVAR:992900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802965af-1311-4509-acba-e977363aef22 CLINVAR:251840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fb2159b-eb45-4070-98f7-309b9f9edcfd CLINVAR:251840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db88a9c-4ff8-4e59-a642-a62f2ae7e57b CLINVAR:36456 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7b85db6-e02b-4191-9972-ca9a34621ce1 CLINVAR:36456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aab0b81-306c-4ce2-9a6c-6f97b4141035 CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb9ba561-b615-4358-81d6-082fa3562acc CLINVAR:183113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788f1b43-c799-4111-892b-38b9860b66e0 CLINVAR:1078477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b080f7c1-61b0-4612-8002-dbe2e9675949 CLINVAR:1078477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd3953f0-f6fd-4ed0-a696-113efb7b7851 CLINVAR:571484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a675f040-3918-454b-a136-06d8e6489bee CLINVAR:571484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa7b71e-49ab-42eb-bce6-462bbbef1057 CLINVAR:3157196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73038a92-09cf-4191-b7e5-0f9fe10db8e7 CLINVAR:3157196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3fdec81-03d5-4230-ab51-16c037ca04b0 CLINVAR:3368645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 254e7afc-bfc8-470e-8d78-973b3e180e53 CLINVAR:3368645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faafc9e6-3646-4919-8d9c-be58258bf584 CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98d51981-45c6-4bea-9357-2733aeafcd53 CLINVAR:3342374 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca706f82-c0b1-4123-9136-fdef3a2deac4 CLINVAR:2121324 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ff8d38b-419f-4e34-a0a3-7958c4317f6f CLINVAR:2121324 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c347de-a3ef-4d01-9a2a-c691997e8ee3 CLINVAR:3377307 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a5459a1-c4fd-4b87-81dd-6fe56d12b305 CLINVAR:3377307 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f558a5-52e0-4469-96c6-6d85fc3c178a CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a79d8855-9979-4430-9f30-80223c01a967 CLINVAR:324989 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eba2e8e-1c98-4136-b98b-29800c49749f CLINVAR:3240389 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5427b3f0-37c3-4f9d-a1ca-2897158e7732 CLINVAR:3240389 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017206ce-afb9-492b-ba97-92c9b14a6962 CLINVAR:898858 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 950afc46-7091-4498-9702-321a266092c3 CLINVAR:898858 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603374c8-d46f-4cc4-a7e6-4c22b505e02a CLINVAR:933316 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c74136e1-d52f-43a6-8b17-fee2ad17ffbd CLINVAR:933316 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4515bf-d795-44a2-a0c8-08960b4ff5d1 CLINVAR:3370796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58e9fe38-2431-4443-965c-d1f35a7c31a8 CLINVAR:3370796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b011e65e-8f83-4740-a7bf-b5a2480e384d CLINVAR:3003823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1319a78d-56c1-4ae8-8570-3dc16e6108d4 CLINVAR:3003823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56dd9c41-043d-4103-b9f9-5eff3a5148b5 CLINVAR:1477479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f0566a1-c075-4745-a805-85cf1605191a CLINVAR:1477479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc32462f-b249-4ee1-a8b2-5b091f37f132 CLINVAR:1012031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5711eee-7146-4200-9872-2984be522612 CLINVAR:1012031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83d4773-d264-4233-a55f-d6ff1b35a0b9 CLINVAR:3436404 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 356e522c-d0d6-47fe-8bf8-550c05d0acee CLINVAR:3436404 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6494d3f-3cca-40df-9735-3d22974111ec CLINVAR:3365708 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7f21a35-009a-45f1-a05b-2f66b7fba756 CLINVAR:3365708 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen affdd838-be25-4673-af6b-e66f80670e66 CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2baea04f-2a48-4633-9def-fab21e10aed8 CLINVAR:3257846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba6a08b-3f6a-4796-8cac-2bbe49216fe2 CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f77e532-394b-4385-a000-f8efadac530f CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e900071-d736-4ee9-8967-3deddc96717f CLINVAR:1290150 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd24b34c-eb1a-482e-8da8-5ed61841f3d1 CLINVAR:633286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7c1bbe4-92fd-4888-836c-5822eccefbca CLINVAR:633286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad9fcf2-4b2e-41e0-a913-c92564a41abe CLINVAR:927821 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f5ab6d0-e2db-4957-9c22-c428307940b5 CLINVAR:927821 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704a94be-ebd8-4564-b1b6-0462a9f8ab98 CLINVAR:431516 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 400fd905-0918-49ed-b956-77b92dd054e3 CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b1d980b-d66c-4f91-aacb-9806b6590856 CLINVAR:251492 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d20bf9d-b58a-42c6-bb1a-ba992c7053fe CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3eeae9e3-e367-4832-82ec-7eada768436a CLINVAR:2010905 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa4bf33-f52e-46ce-9b18-0f360c998b8f CA2797727079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fab210f-d418-4ea8-8c11-b164620af17c CA2797727079 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d3ea28-e36d-4ad5-9936-34d5e87f3ca2 CA386958942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6edfbc3d-eed7-4c64-b6b0-ec7200dc85dc CA386958942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be17393c-a17c-4cf3-8e7b-9874e9d7d4c1 CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11e62f80-104c-4edc-9822-d5899175035e CLINVAR:2575051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beff9f0d-54d8-463a-85d9-edc7141f99dc CA2018007654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45f6058f-acf7-4909-bde9-9682dce117c1 CA2018007654 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303e70b7-f731-45ec-9508-ed9b939358df CA2018007655 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3db33114-343c-478d-b89f-c9e159331efd CA2018007655 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0cf6972-dfe9-41c8-800a-f5eda15ace05 CA315408883 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a31b4792-2860-4f3f-b08a-b18b175ed579 CA315408883 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b1f850-1430-427e-beb0-5a70e8564a4a CLINVAR:804916 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f0e0b62-e935-450f-b2fb-80ef18f8a446 CLINVAR:804916 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cc60ce-e784-42f8-85d6-81907a279715 CA315420234 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 619783e2-a97a-46a2-b133-d32c23b94685 CA315420234 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9648e419-a5ea-4b0d-8417-d2377aeb6c72 CA367358198 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb8ae3d0-6037-42dc-84b2-341cb9ad25ed CA367358198 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e42512-9ecb-4da2-9648-7c012bfa2a28 CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4377ac2-c584-41c3-a42e-fb4d627b7cbd CLINVAR:129144 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e3962c-1175-472a-b526-435cc6ec6426 CA367403318 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd600167-09fb-4055-b292-ecc654472cfc CA367403318 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf8b44a-241d-4a46-939f-74ea07482c7b CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9d7174c-2326-409b-8dca-8d6c3bac5a91 CLINVAR:418225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a2ac1ef-265f-49a2-903c-a575f0d6332c CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27606c7f-2d24-4b0a-8760-278606805cb7 CLINVAR:377026 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86741b4-7009-4dcb-a7f7-9a08188d2073 CLINVAR:196223 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 183e38f1-216e-4135-8e44-4cb52d5dc82f CLINVAR:196223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d737e9-4e5d-4203-a021-91209d1474aa CLINVAR:498567 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bfc056b-b455-48d5-b4fb-dc77f75e636c CLINVAR:498567 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e9cc8c-5144-45e1-a301-4a3d42a03387 CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bfe3000-e292-48b5-9b45-7b9e8dc10f36 CLINVAR:1065143 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25b75b1-21a5-4b60-99b0-e11709372ce4 CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a24389e-9a52-4fac-b161-dabc3bf10465 CLINVAR:370146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e6f848-94a5-4e64-9241-94a328e7d504 CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 298e2610-ad75-4275-9dd9-f57a06b6b5f7 CLINVAR:371281 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02fe93f-f151-40f1-86f9-bf6e62026990 CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e50a71a-4c01-40fa-8b2c-ad25e901ab5c CLINVAR:189040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc0b0082-ca59-4660-b849-59d5900b0ba4 CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a6f66e3-78a7-4093-bd10-b2e6e8a1c6e2 CLINVAR:556386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bc4f9f-dd59-44ab-a2c4-4976d7a27279 CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e42604ed-92ef-4aa4-93af-939c44ef1e27 CLINVAR:370222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52131b0d-cd7b-4556-a651-e75a0404e097 CLINVAR:284776 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bb92787-ae4e-4020-95b4-831395de140e CLINVAR:284776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c81aa42-e8d8-405a-a0a4-3f2077c22df7 CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac02dd50-b9f3-4ee7-b606-d90c6e328e9d CLINVAR:953728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab09f71-2b50-4dc7-9ea3-719e7172db9d CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f62eb93-5345-45bf-90c1-5971aab88b23 CLINVAR:972793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39d25e6-d845-45e3-8ab7-54739a8b676b CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e5c12d8-8ebb-4ee1-a619-c9b8dbe79dab CLINVAR:982495 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22fd12c-f574-451b-a8cd-bbce15f94a1d CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e421e60-6108-4f88-aa13-8cdbe0def13a CLINVAR:528065 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502fbfd6-6a6e-433b-9bff-764e55d1547b CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0dd4e7f-c3e0-40dc-8b5b-ea63ecca044f CLINVAR:533345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen